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<meta name="keywords" content="C0027960, mole, mole, skin, moles, skin, naevi, naevus, neoplastic process, nevi, nevus, skin mole, skin moles, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=45074
ConceptID=C0027960
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Nevus</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45074</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0027960</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Mole, Skin; Moles, Skin; Nevi; Skin Mole; Skin Moles</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Skin mole (51697005)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003764">HP:0003764</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Nevus</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871273" ref="tree=MeSH" title="MedGen record for Abnormality of the integument">Abnormality of the integument</a></span><ul><li><span class="TLline"><a href="/medgen/1845238" ref="tree=MeSH" title="MedGen record for Abnormality of the skin">Abnormality of the skin</a></span><ul><li><span class="TLline"><a href="/medgen/869110" ref="tree=MeSH" title="MedGen record for Abnormal skin morphology">Abnormal skin morphology</a></span><ul><li><span class="TLline"><a href="/medgen/208858" ref="tree=MeSH" title="MedGen record for Localized skin lesion">Localized skin lesion</a></span><ul><li><span class="matched_ds">Nevus</span><ul><li><span class="TLline"><a href="/medgen/867460" ref="tree=MeSH" title="MedGen record for Atypical nevi in non-sun exposed areas">Atypical nevi in non-sun exposed areas</a></span></li><li><span class="TLline"><a href="/medgen/60020" ref="tree=MeSH" title="MedGen record for Atypical nevus">Atypical nevus</a></span><ul><li><span class="TLline"><a href="/medgen/274413" ref="tree=MeSH" title="MedGen record for Vulvar Dysplastic Melanocytic Nevus">Vulvar Dysplastic Melanocytic Nevus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3937" ref="tree=MeSH" title="MedGen record for B-K mole (nevus) syndrome">B-K mole (nevus) syndrome</a></span></li><li><span class="TLline"><a href="/medgen/104930" ref="tree=MeSH" title="MedGen record for Blue nevus">Blue nevus</a></span><ul><li><span class="TLline"><a href="/medgen/137764" ref="tree=MeSH" title="MedGen record for Cellular Blue Nevus">Cellular Blue Nevus</a></span></li><li><span class="TLline"><a href="/medgen/273906" ref="tree=MeSH" title="MedGen record for Cervical Blue Nevus">Cervical Blue Nevus</a></span></li><li><span class="TLline"><a href="/medgen/83405" ref="tree=MeSH" title="MedGen record for Common Blue Nevus">Common Blue Nevus</a></span></li><li><span class="TLline"><a href="/medgen/311444" ref="tree=MeSH" title="MedGen record for Vaginal Blue Nevus">Vaginal Blue Nevus</a></span></li><li><span class="TLline"><a href="/medgen/276990" ref="tree=MeSH" title="MedGen record for Vulvar Blue Nevus">Vulvar Blue Nevus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1381094" ref="tree=MeSH" title="MedGen record for Congenital panfollicular nevus">Congenital panfollicular nevus</a></span></li><li><span class="TLline"><a href="/medgen/83107" ref="tree=MeSH" title="MedGen record for Connective tissue nevi">Connective tissue nevi</a></span><ul><li><span class="TLline"><a href="/medgen/75590" ref="tree=MeSH" title="MedGen record for Collagenoma">Collagenoma</a></span></li><li><span class="TLline"><a href="/medgen/96072" ref="tree=MeSH" title="MedGen record for Eruptive Collagenoma">Eruptive Collagenoma</a></span></li><li><span class="TLline"><a href="/medgen/98364" ref="tree=MeSH" title="MedGen record for Sclerotic Fibroma">Sclerotic Fibroma</a></span></li><li><span class="TLline"><a href="/medgen/96599" ref="tree=MeSH" title="MedGen record for Shagreen patch">Shagreen patch</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/83106" ref="tree=MeSH" title="MedGen record for Epidermal nevus">Epidermal nevus</a></span><ul><li><span class="TLline"><a href="/medgen/75592" ref="tree=MeSH" title="MedGen record for Nevus comedonicus syndrome">Nevus comedonicus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/840896" ref="tree=MeSH" title="MedGen record for Nevus sebaceous">Nevus sebaceous</a></span><ul><li><span class="TLline"><a href="/medgen/1646345" ref="tree=MeSH" title="MedGen record for Linear nevus sebaceous syndrome">Linear nevus sebaceous syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/83927" ref="tree=MeSH" title="MedGen record for Verrucous nevus">Verrucous nevus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/141636" ref="tree=MeSH" title="MedGen record for Halo nevus">Halo nevus</a></span></li><li><span class="TLline"><a href="/medgen/61670" ref="tree=MeSH" title="MedGen record for Intradermal nevus">Intradermal nevus</a></span><ul><li><span class="TLline"><a href="/medgen/83145" ref="tree=MeSH" title="MedGen record for Neuronevus">Neuronevus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/14364" ref="tree=MeSH" title="MedGen record for Melanocytic nevus">Melanocytic nevus</a></span><ul><li><span class="TLline"><a href="/medgen/264151" ref="tree=MeSH" title="MedGen record for Benign melanocytic skin nevus">Benign melanocytic skin nevus</a></span><ul><li><span class="TLline"><a href="/medgen/1689815" ref="tree=MeSH" title="MedGen record for Acral Nevus">Acral Nevus</a></span></li><li><span class="TLline"><a href="/medgen/137759" ref="tree=MeSH" title="MedGen record for Balloon Cell Nevus">Balloon Cell Nevus</a></span></li><li><span class="TLline"><a href="/medgen/361219" ref="tree=MeSH" title="MedGen record for Breast Nevus">Breast Nevus</a></span></li><li><span class="TLline"><a href="/medgen/83404" ref="tree=MeSH" title="MedGen record for Cockade Nevus">Cockade Nevus</a></span></li><li><span class="TLline"><a href="/medgen/1713726" ref="tree=MeSH" title="MedGen record for Combined Nevus">Combined Nevus</a></span></li><li><span class="TLline"><a href="/medgen/272090" ref="tree=MeSH" title="MedGen record for Congenital Melanocytic Nevus">Congenital Melanocytic Nevus</a></span></li><li><span class="TLline"><a href="/medgen/91083" ref="tree=MeSH" title="MedGen record for Desmoplastic nevus">Desmoplastic nevus</a></span></li><li><span class="TLline"><a href="/medgen/363797" ref="tree=MeSH" title="MedGen record for Flexural Skin Nevus">Flexural Skin Nevus</a></span></li><li><span class="TLline"><a href="/medgen/363447" ref="tree=MeSH" title="MedGen record for Head and Neck Nevus">Head and Neck Nevus</a></span></li><li><span class="TLline"><a href="/medgen/414934" ref="tree=MeSH" title="MedGen record for Meyerson Nevus">Meyerson Nevus</a></span></li><li><span class="TLline"><a href="/medgen/87538" ref="tree=MeSH" title="MedGen record for Nevus spilus">Nevus spilus</a></span></li><li><span class="TLline"><a href="/medgen/83146" ref="tree=MeSH" title="MedGen record for Nonpigmented Nevus">Nonpigmented Nevus</a></span></li><li><span class="TLline"><a href="/medgen/65985" ref="tree=MeSH" title="MedGen record for Palpebral nevus">Palpebral nevus</a></span></li><li><span class="TLline"><a href="/medgen/777118" ref="tree=MeSH" title="MedGen record for Pigmented Nevus">Pigmented Nevus</a></span></li><li><span class="TLline"><a href="/medgen/277582" ref="tree=MeSH" title="MedGen record for Recurrent Nevus">Recurrent Nevus</a></span></li><li><span class="TLline"><a href="/medgen/234601" ref="tree=MeSH" title="MedGen record for Regressing Nevus">Regressing Nevus</a></span></li><li><span class="TLline"><a href="/medgen/61671" ref="tree=MeSH" title="MedGen record for Spitz nevus">Spitz nevus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78058" ref="tree=MeSH" title="MedGen record for Compound Nevus">Compound Nevus</a></span><ul><li><span class="TLline"><a href="/medgen/1737720" ref="tree=MeSH" title="MedGen record for Conjunctival Compound Nevus">Conjunctival Compound Nevus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/83422" ref="tree=MeSH" title="MedGen record for Conjunctival nevus">Conjunctival nevus</a></span><ul><li><span class="TLline"><a href="/medgen/1769337" ref="tree=MeSH" title="MedGen record for Conjunctival Blue Nevus">Conjunctival Blue Nevus</a></span></li><li><span class="TLline"><a href="/medgen/1761774" ref="tree=MeSH" title="MedGen record for Conjunctival Junctional Nevus">Conjunctival Junctional Nevus</a></span></li><li><span class="TLline"><a href="/medgen/1753228" ref="tree=MeSH" title="MedGen record for Conjunctival Spitz Nevus">Conjunctival Spitz Nevus</a></span></li><li><span class="TLline"><a href="/medgen/1761366" ref="tree=MeSH" title="MedGen record for Conjunctival Subepithelial Nevus">Conjunctival Subepithelial Nevus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/148177" ref="tree=MeSH" title="MedGen record for Hyperpigmented nevi">Hyperpigmented nevi</a></span></li><li><span class="TLline"><a href="/medgen/812022" ref="tree=MeSH" title="MedGen record for Hyperpigmented nevi and streak">Hyperpigmented nevi and streak</a></span></li><li><span class="TLline"><a href="/medgen/137762" ref="tree=MeSH" title="MedGen record for Junctional Nevus">Junctional Nevus</a></span></li><li><span class="TLline"><a href="/medgen/330752" ref="tree=MeSH" title="MedGen record for Large congenital melanocytic nevus">Large congenital melanocytic nevus</a></span></li><li><span class="TLline"><a href="/medgen/75591" ref="tree=MeSH" title="MedGen record for Mongolian blue spot">Mongolian blue spot</a></span></li><li><span class="TLline"><a href="/medgen/273581" ref="tree=MeSH" title="MedGen record for Nevus of Female Genitalia">Nevus of Female Genitalia</a></span><ul><li><span class="TLline"><a href="/medgen/267717" ref="tree=MeSH" title="MedGen record for Benign Vaginal Melanocytic Nevus">Benign Vaginal Melanocytic Nevus</a></span></li><li><span class="TLline"><a href="/medgen/925536" ref="tree=MeSH" title="MedGen record for Vulvar Melanocytic Nevus">Vulvar Melanocytic Nevus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/14363" ref="tree=MeSH" title="MedGen record for Nevus of Ota">Nevus of Ota</a></span></li><li><span class="TLline"><a href="/medgen/812745" ref="tree=MeSH" title="MedGen record for Numerous congenital melanocytic nevi">Numerous congenital melanocytic nevi</a></span></li><li><span class="TLline"><a href="/medgen/60220" ref="tree=MeSH" title="MedGen record for Spindle cell nevus">Spindle cell nevus</a></span></li><li><span class="TLline"><a href="/medgen/1623401" ref="tree=MeSH" title="MedGen record for Spitz Melanocytoma">Spitz Melanocytoma</a></span></li><li><span class="TLline"><a href="/medgen/1727578" ref="tree=MeSH" title="MedGen record for Uveal Nevus">Uveal Nevus</a></span><ul><li><span class="TLline"><a href="/medgen/577387" ref="tree=MeSH" title="MedGen record for Choroidal nevus">Choroidal nevus</a></span></li><li><span class="TLline"><a href="/medgen/1729960" ref="tree=MeSH" title="MedGen record for Ciliary Body Nevus">Ciliary Body Nevus</a></span></li><li><span class="TLline"><a href="/medgen/83423" ref="tree=MeSH" title="MedGen record for Iris nevus">Iris nevus</a></span></li><li><span class="TLline"><a href="/medgen/1745185" ref="tree=MeSH" title="MedGen record for Uveal Melanocytoma">Uveal Melanocytoma</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1841866" ref="tree=MeSH" title="MedGen record for Nevus psiloliparus">Nevus psiloliparus</a></span></li><li><span class="TLline"><a href="/medgen/1372214" ref="tree=MeSH" title="MedGen record for Nevus sebaceus">Nevus sebaceus</a></span></li><li><span class="TLline"><a href="/medgen/341508" ref="tree=MeSH" title="MedGen record for Numerous nevi">Numerous nevi</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_6009"><div><strong>Langer-Giedion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6009</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0023003</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Trichorhinophalangeal syndrome (TRPS) comprises TRPS I (caused by a heterozygous pathogenic variant in TRPS1) and TRPS II (caused by a contiguous gene deletion of TRPS1, RAD21, and EXT1). Both TRPS types are characterized by distinctive facial features (large nose with broad nasal ridge and tip and underdeveloped alae; thick and broad medial eyebrows; long philtrum; thin vermilion of the upper lip; and large prominent ears); ectodermal features (fine, sparse, depigmented, and slow-growing hair and dystrophic nails); and skeletal findings (short stature, brachydactyly with ulnar or radial deviation of the fingers, short feet, and early, marked hip dysplasia). TRPS II is additionally characterized by multiple osteochondromas and an increased risk of mild-to-moderate intellectual disability.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6009">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_39008"><div><strong>Proteus syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39008</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0085261</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">Proteus syndrome (PS) is characterized by progressive segmental or patchy overgrowth most commonly affecting the skeleton, skin, adipose, and central nervous systems. In most individuals PS has modest or no manifestations at birth, develops and progresses rapidly beginning in the toddler period, and relentlessly progresses through childhood, causing severe overgrowth and disfigurement. It is associated with a range of tumors, pulmonary complications, and a striking predisposition to deep vein thrombosis and pulmonary embolism.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/39008">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_65137"><div><strong>Elastosis perforans serpiginosa</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65137</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0221271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare acquired dermis elastic tissue disorder with increased elastic tissue characterized by focal dermal elastosis and transepidermal elimination of abnormal elastic fibers, presenting as small keratotic papules or plaques arranged in groups in serpiginous or annular patterns on the neck, face, and arms, while other areas are less frequently affected. Although spontaneous regression is possible, the lesions often persist over longer periods of time. The condition typically occurs during childhood or early adulthood and is more frequent in men than in women.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/65137">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_82697"><div><strong>Child syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82697</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0265267</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">NSDHL-related disorders include CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects) syndrome, an X-linked disorder that is usually male lethal during gestation and thus predominantly affects females; and CK syndrome, an X-linked disorder that affects males. CHILD syndrome is characterized by unilateral distribution of ichthyosiform skin lesions and ipsilateral limb defects that range from shortening of the metacarpals and phalanges to absence of the entire limb. Intellect is usually normal. The ichthyosiform skin lesions are usually present at birth or in the first weeks of life; new lesions can develop in later life. Onychodystrophy and periungual hyperkeratosis are common. Heart, lung, and kidney malformations can also occur. CK syndrome is characterized by mild-to-severe cognitive impairment and behavior problems (aggression, attention-deficit/hyperactivity disorder [ADHD], and irritability). All reported affected males have developed seizures in infancy and have cerebral cortical malformations and microcephaly. All have distinctive facial features, a thin habitus, and relatively long, thin fingers and toes. Some have scoliosis and kyphosis. Strabismus is common. Optic atrophy is also reported.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/82697">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_120545"><div><strong>Dermatofibrosis lenticularis disseminata</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120545</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0265514</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Buschke-Ollendorff syndrome (BOS) is an autosomal dominant connective tissue disorder manifest by multiple subcutaneous nevi or nodules. They may be either elastin-rich (elastoma) or collagen-rich (dermatofibrosis lenticularis disseminata) on histologic examination. The lesions are usually nontender and firm. Affected individuals also have osteopoikilosis (OPK), literally meaning 'spotted bones,' which are osteosclerotic foci that occur in the epiphyses and metaphyses of long bones, wrist, foot, ankle, pelvis, and scapula. Some individuals have both skin and bone manifestations, whereas others may lack skin or bone manifestations. Some individuals may also have melorheostosis (155950), which is characterized by 'flowing' hyperostosis of the cortex of tubular bones. Most reported cases of BOS and OPK are benign, and the bone lesions are found incidentally, although some patients may have joint pain (reviews by Hellemans et al., 2004 and Zhang et al., 2009).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/120545">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_87539"><div><strong>Follicular atrophoderma and basal cell epitheliomata</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87539</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0346104</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">Bazex-Dupre-Christol syndrome (BDCS) is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward (Yung and Newton-Bishop, 2005).&#13; Rombo syndrome (180730) has similar features, but shows autosomal dominant inheritance.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/87539">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_108454"><div><strong>Costello syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108454</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0587248</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">While the majority of individuals with HRAS-related Costello syndrome (Costello syndrome) share characteristic findings affecting multiple organ systems, the phenotypic spectrum is wide, ranging from a mild or attenuated phenotype to a severe phenotype with early-lethal complications. Costello syndrome is typically characterized by failure to thrive in infancy as a result of severe postnatal feeding difficulties; short stature; developmental delay or intellectual disability; coarse facial features (full lips, large mouth, full nasal tip); curly or sparse, fine hair; loose, soft skin with deep palmar and plantar creases; papillomata of the face and perianal region; diffuse hypotonia and joint laxity with ulnar deviation of the wrists and fingers; tight Achilles tendons; and cardiac involvement including cardiac hypertrophy (usually hypertrophic cardiomyopathy), congenital heart defects (usually valvular pulmonic stenosis), and arrhythmia (usually supraventricular tachycardia, especially abnormal atrial rhythm / multifocal atrial tachycardia or ectopic atrial tachycardia). Relative or absolute macrocephaly is typical, and postnatal cerebellar overgrowth can result in the development of a Chiari I malformation with associated anomalies including hydrocephalus or syringomyelia. Individuals with Costello syndrome have an approximately 15% lifetime risk for malignant tumors including rhabdomyosarcoma and neuroblastoma in young children and transitional cell carcinoma of the bladder in adolescents and young adults.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/108454">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_923028"><div><strong>Elsahy-Waters syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>923028</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0809936</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The core phenotype of Elsahy-Waters syndrome consists of brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation. Skin wrinkling over the glabellar region seems common, and in males, hypospadias has always been present. Inter- and intrafamilial variability has been reported regarding the presence of vertebral fusions, hearing loss, and dentigerous cysts. Midface hypoplasia, facial asymmetry, progressive dental anomalies, and impaired cognitive development become more evident in adulthood (summary by Castori et al., 2010).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/923028">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_344290"><div><strong>Noonan syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344290</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1854469</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/344290">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_347608"><div><strong>Becker nevus syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347608</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1858042</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Becker nevus (BN) is a cutaneous hamartoma affecting approximately 1 in 200 individuals that appears in childhood as a unilateral tan patch, and increases in thickness, pigmentation, and hair growth during adolescence. Histologically, epidermal acanthosis is accompanied by irregularly dispersed ectopic smooth muscle bundles and increased terminal hair follicles (summary by Cai et al., 2017). Becker nevus syndrome (BNS) is a phenotype characterized by the presence of a Becker nevus in association with unilateral hypoplasia of breast or other cutaneous, muscular, or skeletal defects (Happle and Koopman, 1997).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/347608">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_370589"><div><strong>Noonan syndrome 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370589</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1969057</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/370589">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_388559"><div><strong>Carney complex, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>388559</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2607929</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Carney complex (CNC) is characterized by skin pigmentary abnormalities, myxomas, endocrine tumors or overactivity, and schwannomas. Pale brown to black lentigines are the most common presenting feature of CNC and typically increase in number at puberty. Cardiac myxomas occur at a young age, may occur in any or all cardiac chambers, and can manifest as intracardiac obstruction of blood flow, embolic phenomenon, and/or heart failure. Other sites for myxomas include the skin, breast, oropharynx, and female genital tract. Primary pigmented nodular adrenocortical disease (PPNAD), which causes Cushing syndrome, is the most frequently observed endocrine tumor in CNC, occurring in approximately 25% of affected individuals. Large cell calcifying Sertoli cell tumors (LCCSCTs) are observed in one third of affected males within the first decade and in most adult males. Up to 75% of individuals with CNC have multiple thyroid nodules, most of which are nonfunctioning thyroid follicular adenomas. Clinically evident acromegaly from a growth hormone (GH)-producing adenoma is evident in approximately 10% of adults. Psammomatous melanotic schwannoma (PMS), a rare tumor of the nerve sheath, occurs in an estimated 10% of affected individuals. The median age of diagnosis is 20 years.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/388559">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_394371"><div><strong>Camptodactyly syndrome, Guadalajara type 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394371</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2677809</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare genetic bone development disorder with characteristics of hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals widened femoral necks, cortical thickening of long bones and delayed bone age.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/394371">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462053"><div><strong>Frontonasal dysplasia with alopecia and genital anomaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462053</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3150703</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Frontonasal dysplasia-2 (FND2) is an autosomal recessive disorder characterized by variable degrees of alopecia, skull defects, hypertelorism, depressed nasal bridge and ridge with notched alae nasi, and abnormal central nervous system findings (summary by Kariminejad et al., 2014).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462053">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_479331"><div><strong>Vitiligo-associated multiple autoimmune disease susceptibility 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>479331</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3277701</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/479331">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_763817"><div><strong>Cornelia de Lange syndrome 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>763817</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3550903</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; &lt;5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched and/or thick eyebrows, long eyelashes, short nasal bridge with anteverted nares, small widely spaced teeth, and microcephaly. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Across the CdLS spectrum IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/763817">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_906646"><div><strong>Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>906646</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4225222</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, 163950) (summary by Martinelli et al., 2018).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/906646">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_903483"><div><strong>Acrofacial dysostosis Cincinnati type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>903483</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4225317</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015). In addition, a significant number of neurologic abnormalities have been reported, ranging from mild delays to refractory epilepsy, as well as an increased incidence of congenital heart defects, primarily septal in nature (Smallwood et al., 2023).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/903483">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_924579"><div><strong>Fanconi anemia complementation group R</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924579</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4284093</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/924579">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1388282"><div><strong>Rahman syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1388282</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4479637</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The name HIST1H1E syndrome has been proposed as a mnemonic for the characteristic features of this emerging, recognizable phenotype: hypotonia; intellectual disability with behavioral issues; skeletal; testes (undescended) and thyroid; heart anomalies (most commonly atrial septal defect); and ectodermal issues (including sparse hair, thin nails, and abnormal dentition). In the 47 affected individuals reported to date, predominant findings were intellectual disability (ranging from mild to profound) and behavioral issues (combinations of anxiety/phobias, obsessive behaviors, attention-deficit/hyperactivity disorder, and autistic spectrum disorder/traits among others). Skeletal involvement can include scoliosis and decreased bone mineral density. Other findings in some include seizures, craniosynostosis, and hearing loss. Life expectancy does not appear to be reduced in HIST1H1E syndrome.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1388282">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1646345"><div><strong>Linear nevus sebaceous syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646345</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4552097</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al., 2007). The linear sebaceous nevi follow the lines of Blaschko (Hornstein and Knickenberg, 1974; Bouwes Bavinck and van de Kamp, 1985). All cases are sporadic. The syndrome is believed to be caused by an autosomal dominant lethal mutation that survives by somatic mosaicism (Gorlin et al., 2001).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1646345">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1684820"><div><strong>Basilicata-Akhtar syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684820</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5231394</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Basilicata-Akhtar syndrome (MRXSBA) is characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech. Most patients are able to walk, although they may have an unsteady gait or spasticity. Additional findings include dysmorphic facial features and mild distal skeletal anomalies. Males and females are similarly affected (summary by Basilicata et al., 2018).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1684820">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794167"><div><strong>Developmental delay, impaired speech, and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794167</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5561957</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794167">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1823991"><div><strong>Bone marrow failure and diabetes mellitus syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823991</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5774218</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Bone marrow failure and diabetes mellitus syndrome (BMFDMS) is an autosomal recessive disorder characterized by the onset of manifestations of bone marrow failure, such as anemia, thrombocytopenia, and dyserythropoiesis, in infancy or early childhood. White blood cell lineages may or may not be affected. Patients with BMFDMS also develop nonautoimmune insulin-dependent diabetes mellitus in the first or second decades, likely due to apoptosis of pancreatic beta cells. Many patients show pigmentary skin abnormalities and short stature. Bone marrow transplant is curative for the bone marrow failure, but does not have an effect on diabetes (Dos Santos et al., 2017).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1823991">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1824003"><div><strong>Diamond-Blackfan anemia 21</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824003</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5774230</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Diamond-Blackfan anemia-21 (DBA21) is an autosomal recessive bone marrow failure syndrome that includes selective erythroid hypoplasia, anemia with transient thrombocytopenia, short stature, facial dysmorphism, limb abnormalities, cardiac defects, and intellectual disability (O'Donohue et al., 2022).&#13; For a general phenotypic description and discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1824003">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1824057"><div><strong>Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824057</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5774284</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Mosaic variegated aneuploidy syndrome-7 with inflammation and tumor predisposition (MVA7) is an autosomal recessive disorder characterized by increased susceptibility to benign and malignant neoplasms beginning in early childhood. Affected individuals show dysmorphic facies and may have early developmental delay. Patient cells show a high level of aneuploidy due to defects in cell division (Villarroya-Beltri et al., 2022).&#13; For a discussion of genetic heterogeneity of MVA, see MVA1 (257300).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1824057">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1824083"><div><strong>Tessadori-Van Haaften neurodevelopmental syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824083</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5774310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Tessadori-Bicknell-van Haaften neurodevelopmental syndrome-3 (TEBIVANED3) is characterized by global developmental delay with poor overall growth, impaired intellectual development, and speech difficulties. More variable features include hypotonia, microcephaly, and dysmorphic facies. The severity and manifestations of the disorder are highly variable (Tessadori et al., 2022).&#13; For a discussion of genetic heterogeneity of Tessadori-Bicknell-van Haaften neurodevelopmental disorder, see TEBIVANED1 (619758).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1824083">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1841087"><div><strong>Basal cell nevus syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841087</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5830451</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">The basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is characterized by numerous basal cell cancers and epidermal cysts of the skin, calcified dural folds, keratocysts of the jaws, palmar and plantar pits, ovarian fibromas, medulloblastomas, lymphomesenteric cysts, fetal rhabdomyomas, and various stigmata of maldevelopment (e.g., rib and vertebral abnormalities, cleft lip or cleft palate, and cortical defects of bones) (summary by Koch et al., 2002).&#13; For a discussion of genetic heterogeneity of BCNS, see BCNS1 (109400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1841087">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_903483" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acrofacial dysostosis Cincinnati type</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841087" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Basal cell nevus syndrome 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684820" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Basilicata-Akhtar syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347608" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Becker nevus syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823991" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bone marrow failure and diabetes mellitus syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (28)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_394371" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Camptodactyly syndrome, Guadalajara type 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_388559" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carney complex, type 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82697" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Child syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_763817" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cornelia de Lange syndrome 5</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_108454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Costello syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120545" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dermatofibrosis lenticularis disseminata</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794167" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental delay, impaired speech, and behavioral abnormalities</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824003" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diamond-Blackfan anemia 21</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_65137" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elastosis perforans serpiginosa</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_923028" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elsahy-Waters syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_924579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group R</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_87539" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Follicular atrophoderma and basal cell epitheliomata</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462053" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontonasal dysplasia with alopecia and genital anomaly</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Langer-Giedion syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1646345" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Linear nevus sebaceous syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_906646" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824057" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344290" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370589" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome 5</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_39008" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteus syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1388282" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rahman syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824083" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tessadori-Van Haaften neurodevelopmental syndrome 3</a></div>
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<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/36098675">S2k guideline: Laser therapy of the skin.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Paasch U,
Zidane M,
Baron JM,
Bund T,
Cappius HJ,
Drosner M,
Feise K,
Fischer T,
Gauglitz G,
Gerber PA,
Grunewald S,
Herberger K,
Jung A,
Karsai S,
Kautz G,
Philipp C,
Schädel D,
Seitz AT,
Nast A</span><br />
<span class="medgenPMjournal">J Dtsch Dermatol Ges</span>
2022 Sep;20(9):1248-1267.
Epub 2022 Sep 13
doi: 10.1111/ddg.14879.
<span class="bold">PMID: </span><a href="/pubmed/36098675" target="_blank">36098675</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34419523">Infantile hemangioma. Part 2: Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sebaratnam DF,
Rodríguez Bandera AL,
Wong LF,
Wargon O</span><br />
<span class="medgenPMjournal">J Am Acad Dermatol</span>
2021 Dec;85(6):1395-1404.
Epub 2021 Aug 19
doi: 10.1016/j.jaad.2021.08.020.
<span class="bold">PMID: </span><a href="/pubmed/34419523" target="_blank">34419523</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26650693">White lesions in the oral cavity: clinical presentation, diagnosis, and treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jones KB,
Jordan R</span><br />
<span class="medgenPMjournal">Semin Cutan Med Surg</span>
2015 Dec;34(4):161-70.
doi: 10.12788/j.sder.2015.0180.
<span class="bold">PMID: </span><a href="/pubmed/26650693" target="_blank">26650693</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22nevus%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (302)</a></div></div>
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<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/36642570">Melanocytic naevi, melanocytomas and emerging concepts.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yeh I</span><br />
<span class="medgenPMjournal">Pathology</span>
2023 Mar;55(2):178-186.
Epub 2022 Dec 27
doi: 10.1016/j.pathol.2022.12.341.
<span class="bold">PMID: </span><a href="/pubmed/36642570" target="_blank">36642570</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28477881">Spitz Tumors of the Skin.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Menezes FD,
Mooi WJ</span><br />
<span class="medgenPMjournal">Surg Pathol Clin</span>
2017 Jun;10(2):281-298.
Epub 2017 Mar 31
doi: 10.1016/j.path.2017.01.004.
<span class="bold">PMID: </span><a href="/pubmed/28477881" target="_blank">28477881</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27020388">Paediatric melanoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wood BA</span><br />
<span class="medgenPMjournal">Pathology</span>
2016 Feb;48(2):155-65.
Epub 2016 Jan 16
doi: 10.1016/j.pathol.2015.12.001.
<span class="bold">PMID: </span><a href="/pubmed/27020388" target="_blank">27020388</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21549240">Congenital melanocytic nevi.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zayour M,
Lazova R</span><br />
<span class="medgenPMjournal">Clin Lab Med</span>
2011 Jun;31(2):267-80.
doi: 10.1016/j.cll.2011.03.004.
<span class="bold">PMID: </span><a href="/pubmed/21549240" target="_blank">21549240</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9190137">Torpedo maculopathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Teitelbaum BA,
Hachey DL,
Messner LV</span><br />
<span class="medgenPMjournal">J Am Optom Assoc</span>
1997 Jun;68(6):373-6.
<span class="bold">PMID: </span><a href="/pubmed/9190137" target="_blank">9190137</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nevus%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4458)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36597882">Cockade Nevus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang LW,
Chen T</span><br />
<span class="medgenPMjournal">J Cutan Med Surg</span>
2023 Jan-Feb;27(1):78.
Epub 2023 Jan 4
doi: 10.1177/12034754221147282.
<span class="bold">PMID: </span><a href="/pubmed/36597882" target="_blank">36597882</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35519166">Becker's nevus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baalann KP,
Krishnan M</span><br />
<span class="medgenPMjournal">Pan Afr Med J</span>
2022;41:142.
Epub 2022 Feb 17
doi: 10.11604/pamj.2022.41.142.33417.
<span class="bold">PMID: </span><a href="/pubmed/35519166" target="_blank">35519166</a><a href="/pmc/articles/PMC9046857" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34503728">Spitz Nevus: Review and Update.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Brown A,
Sawyer JD,
Neumeister MW</span><br />
<span class="medgenPMjournal">Clin Plast Surg</span>
2021 Oct;48(4):677-686.
Epub 2021 Aug 18
doi: 10.1016/j.cps.2021.06.002.
<span class="bold">PMID: </span><a href="/pubmed/34503728" target="_blank">34503728</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33433097">Kissing naevus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lysebo DE,
Krohn J</span><br />
<span class="medgenPMjournal">Tidsskr Nor Laegeforen</span>
2021 Jan 12;141(1)
Epub 2021 Jan 7
doi: 10.4045/tidsskr.20.0605.
<span class="bold">PMID: </span><a href="/pubmed/33433097" target="_blank">33433097</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18246877">Nevus spilus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vaidya DC,
Schwartz RA,
Janniger CK</span><br />
<span class="medgenPMjournal">Cutis</span>
2007 Dec;80(6):465-8.
<span class="bold">PMID: </span><a href="/pubmed/18246877" target="_blank">18246877</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nevus%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7483)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/34428533">Topical sirolimus therapy for nevus sebaceus and epidermal nevus: A case series.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou AG,
Antaya RJ</span><br />
<span class="medgenPMjournal">J Am Acad Dermatol</span>
2022 Aug;87(2):407-409.
Epub 2021 Aug 21
doi: 10.1016/j.jaad.2021.08.029.
<span class="bold">PMID: </span><a href="/pubmed/34428533" target="_blank">34428533</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27759434">Drug-induced eruptive melanocytic nevi.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vena GA,
Fargnoli MC,
Cassano N,
Argenziano G</span><br />
<span class="medgenPMjournal">Expert Opin Drug Metab Toxicol</span>
2017 Mar;13(3):293-300.
Epub 2016 Oct 21
doi: 10.1080/17425255.2017.1247155.
<span class="bold">PMID: </span><a href="/pubmed/27759434" target="_blank">27759434</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24364998">Verrucous epidermal nevus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kim R,
Marmon S,
Kaplan J,
Kamino H,
Pomeranz MK</span><br />
<span class="medgenPMjournal">Dermatol Online J</span>
2013 Dec 16;19(12):20707.
<span class="bold">PMID: </span><a href="/pubmed/24364998" target="_blank">24364998</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6234914">Azelaic acid.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Breathnach AS,
Nazzaro-Porro M,
Passi S</span><br />
<span class="medgenPMjournal">Br J Dermatol</span>
1984 Jul;111(1):115-20.
doi: 10.1111/j.1365-2133.1984.tb04025.x.
<span class="bold">PMID: </span><a href="/pubmed/6234914" target="_blank">6234914</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4856355">Levodopa and melanoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lieberman AN,
Shupack JL</span><br />
<span class="medgenPMjournal">Neurology</span>
1974 Apr;24(4):340-3.
doi: 10.1212/wnl.24.4.340.
<span class="bold">PMID: </span><a href="/pubmed/4856355" target="_blank">4856355</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nevus%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1751)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36149403">Risk of melanoma in congenital melanocytic nevi of all sizes: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Scard C,
Aubert H,
Wargny M,
Martin L,
Barbarot S</span><br />
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
2023 Jan;37(1):32-39.
Epub 2022 Oct 5
doi: 10.1111/jdv.18581.
<span class="bold">PMID: </span><a href="/pubmed/36149403" target="_blank">36149403</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32484627">Multiple Primary Melanomas Occurring Around the Same Time: A Review of Terminology and Implications.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shih S,
Dai C,
Shih T,
Khachemoune A</span><br />
<span class="medgenPMjournal">J Drugs Dermatol</span>
2020 May 1;19(5):471-474.
<span class="bold">PMID: </span><a href="/pubmed/32484627" target="_blank">32484627</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14717407">Cutaneous diseases in Asians.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lee CS,
Lim HW</span><br />
<span class="medgenPMjournal">Dermatol Clin</span>
2003 Oct;21(4):669-77.
doi: 10.1016/s0733-8635(03)00078-0.
<span class="bold">PMID: </span><a href="/pubmed/14717407" target="_blank">14717407</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9553913">Lichen striatus-like leukoderma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wu T</span><br />
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
1998 Mar;10(2):152-4.
<span class="bold">PMID: </span><a href="/pubmed/9553913" target="_blank">9553913</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8723827">Vulvar melanoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Panizzon RG</span><br />
<span class="medgenPMjournal">Semin Dermatol</span>
1996 Mar;15(1):67-70.
doi: 10.1016/s1085-5629(96)80021-6.
<span class="bold">PMID: </span><a href="/pubmed/8723827" target="_blank">8723827</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nevus%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2743)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/34503728">Spitz Nevus: Review and Update.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Brown A,
Sawyer JD,
Neumeister MW</span><br />
<span class="medgenPMjournal">Clin Plast Surg</span>
2021 Oct;48(4):677-686.
Epub 2021 Aug 18
doi: 10.1016/j.cps.2021.06.002.
<span class="bold">PMID: </span><a href="/pubmed/34503728" target="_blank">34503728</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34356093">The Interplay between Nevi and Melanoma Predisposition Unravels Nevi-Related and Nevi-Resistant Familial Melanoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pellegrini S,
Elefanti L,
Dall'Olmo L,
Menin C</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2021 Jul 16;12(7)
doi: 10.3390/genes12071077.
<span class="bold">PMID: </span><a href="/pubmed/34356093" target="_blank">34356093</a><a href="/pmc/articles/PMC8303673" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33432480">ESP, EORTC, and EURACAN Expert Opinion: practical recommendations for the pathological diagnosis and clinical management of intermediate melanocytic tumors and rare related melanoma variants.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">de la Fouchardiere A,
Blokx W,
van Kempen LC,
Luzar B,
Piperno-Neumann S,
Puig S,
Alos L,
Calonje E,
Massi D;
ESP Dermatopathology Working Group;
EORTC Melanoma Group;
EURACAN</span><br />
<span class="medgenPMjournal">Virchows Arch</span>
2021 Jul;479(1):3-11.
Epub 2021 Jan 12
doi: 10.1007/s00428-020-03005-1.
<span class="bold">PMID: </span><a href="/pubmed/33432480" target="_blank">33432480</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32482311">Interpretation of the Complex Melanoma Pathology Report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Crompton JG,
Busam KJ,
Bartlett EK</span><br />
<span class="medgenPMjournal">Surg Oncol Clin N Am</span>
2020 Jul;29(3):327-338.
doi: 10.1016/j.soc.2020.02.013.
<span class="bold">PMID: </span><a href="/pubmed/32482311" target="_blank">32482311</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24694641">Atypical Spitz tumours and sentinel lymph node biopsy: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lallas A,
Kyrgidis A,
Ferrara G,
Kittler H,
Apalla Z,
Castagnetti F,
Longo C,
Moscarella E,
Piana S,
Zalaudek I,
Argenziano G</span><br />
<span class="medgenPMjournal">Lancet Oncol</span>
2014 Apr;15(4):e178-83.
doi: 10.1016/S1470-2045(13)70608-9.
<span class="bold">PMID: </span><a href="/pubmed/24694641" target="_blank">24694641</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nevus%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2992)</a></div></div>
</div>
<div class="portlet mgSection" id="ID_104">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/37210654">Melanoma in children: A systematic review and individual patient meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pampena R,
Piccolo V,
Muscianese M,
Kyrgidis A,
Lai M,
Russo T,
Briatico G,
Di Brizzi EV,
Cascone G,
Pellerone S,
Longo C,
Moscarella E,
Argenziano G</span><br />
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
2023 Sep;37(9):1758-1776.
Epub 2023 Jun 2
doi: 10.1111/jdv.19220.
<span class="bold">PMID: </span><a href="/pubmed/37210654" target="_blank">37210654</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36149403">Risk of melanoma in congenital melanocytic nevi of all sizes: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Scard C,
Aubert H,
Wargny M,
Martin L,
Barbarot S</span><br />
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
2023 Jan;37(1):32-39.
Epub 2022 Oct 5
doi: 10.1111/jdv.18581.
<span class="bold">PMID: </span><a href="/pubmed/36149403" target="_blank">36149403</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33481271">Nevus comedonicus syndrome: A systematic review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Torchia D</span><br />
<span class="medgenPMjournal">Pediatr Dermatol</span>
2021 Mar;38(2):359-363.
Epub 2021 Jan 22
doi: 10.1111/pde.14508.
<span class="bold">PMID: </span><a href="/pubmed/33481271" target="_blank">33481271</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31792950">The outcome of using different surgical modalities and laser therapy in the treatment of small- and medium-sized congenital melanocytic nevi: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">ALMutairi HM,
Al-Hothali GI</span><br />
<span class="medgenPMjournal">Int J Dermatol</span>
2020 May;59(5):535-542.
Epub 2019 Dec 3
doi: 10.1111/ijd.14727.
<span class="bold">PMID: </span><a href="/pubmed/31792950" target="_blank">31792950</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24815763">Non-syndromic and syndromic keratocystic odontogenic tumors: systematic review and meta-analysis of recurrences.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Antonoglou GN,
Sándor GK,
Koidou VP,
Papageorgiou SN</span><br />
<span class="medgenPMjournal">J Craniomaxillofac Surg</span>
2014 Oct;42(7):e364-71.
Epub 2014 Apr 1
doi: 10.1016/j.jcms.2014.03.020.
<span class="bold">PMID: </span><a href="/pubmed/24815763" target="_blank">24815763</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nevus%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (65)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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