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<meta name="keywords" content="C0574769, absence of scalp hair, alopecia of scalp, balding, baldness, finding, loss of scalp hair, missing scalp hair, pathologic hair loss from scalp, scalp alopecia, scalp hair loss, 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="" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Alopecia of scalp</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>658454</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.">C0574769</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Loss of scalp hair; Scalp alopecia</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Loss of scalp hair (298000004); Balding (298000004)</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:0002293">HP:0002293</a></td></tr>
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<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="TLline">Alopecia of scalp</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/867442" ref="tree=MeSH" title="MedGen record for Abnormality of head or neck">Abnormality of head or neck</a></span><ul><li><span class="TLline"><a href="/medgen/867438" ref="tree=MeSH" title="MedGen record for Abnormality of the head">Abnormality of the head</a></span><ul><li><span class="TLline"><a href="/medgen/871249" ref="tree=MeSH" title="MedGen record for Abnormal scalp morphology">Abnormal scalp morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867993" ref="tree=MeSH" title="MedGen record for Abnormality of the scalp hair">Abnormality of the scalp hair</a></span><ul><li><span class="matched_ds">Alopecia of scalp</span><ul><li><span class="TLline"><a href="/medgen/812631" ref="tree=MeSH" title="MedGen record for Scarring alopecia of scalp">Scarring alopecia of scalp</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>
<div class="portlet_content ln clinfeat">
<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_12147"><div><strong>Werner syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12147</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.">C0043119</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Werner syndrome is characterized by the premature appearance of features associated with normal aging and cancer predisposition. Individuals with Werner syndrome develop normally until the end of the first decade. The first sign is the lack of a growth spurt during the early teen years. Early findings (usually observed in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by bilateral ocular cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Myocardial infarction and cancer are the most common causes of death; the mean age of death in individuals with Werner syndrome is 54 years.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/12147">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_66355"><div><strong>Hereditary acrodermatitis enteropathica</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66355</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.">C0221036</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Acrodermatitis enteropathica of the zinc deficiency type (AEZ) is characterized by intermittent simultaneous occurrence of diarrhea and dermatitis with failure to thrive. Alopecia of the scalp, eyebrows, and eyelashes is a usual feature. The skin lesions are bullous. Noteworthy is the cure by diodoquin, or diiodohydroxyquinoline (Dillaha et al., 1953; Bloom and Sobel, 1955). Rodin and Goldman (1969) described autopsy findings, including pancreatic islet hyperplasia, absence of the thymus and of germinal centers, and plasmocytosis of lymph nodes and spleen.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66355">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_78097"><div><strong>Perifolliculitis capitis abscedens et suffodiens</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78097</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.">C0263506</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Perifolliculitis capitis abscedens et suffodiens is a chronic inflammatory disease of the scalp characterized by the presence of large and small nodules that suppurate and intercommunicate by sinus formation. It may be more frequent in black males than in others (summary by McMullan and Zeligman, 1956).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/78097">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_82790"><div><strong>Ehlers-Danlos syndrome, type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82790</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.">C0268338</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Vascular Ehlers-Danlos syndrome (vEDS) is characterized by arterial, intestinal, and/or uterine fragility; thin, translucent skin; easy bruising; characteristic facial appearance (thin vermilion of the lips, micrognathia, narrow nose, prominent eyes); and an aged appearance to the extremities, particularly the hands. Vascular dissection or rupture, gastrointestinal perforation, or organ rupture are the presenting signs in most adults with vEDS. Arterial rupture may be preceded by aneurysm, arteriovenous fistulae, or dissection but also may occur spontaneously. The majority (60%) of individuals with vEDS who are diagnosed before age 18 years are identified because of a positive family history. Neonates may present with clubfoot, hip dislocation, limb deficiency, and/or amniotic bands. Approximately half of children tested for vEDS in the absence of a positive family history present with a major complication at an average age of 11 years. Four minor diagnostic features distal joint hypermobility, easy bruising, thin skin, and clubfeet are most often present in those children ascertained without a major complication.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/82790">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_91009"><div><strong>Flynn-Aird syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91009</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.">C0343108</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare genetic disease characterized by childhood onset of bilateral progressive sensorineural hearing loss, ocular anomalies (myopia, cataract, retinitis pigmentosa), central and peripheral nervous system features (dementia, epilepsy, ataxia, peripheral neuropathy), ectodermal features (skin atrophy, alopecia, dental caries), and skeletal anomalies (bone cysts, joint stiffness, scoliosis, kyphosis). Laboratory examination may reveal elevated cerebrospinal fluid protein.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/91009">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_140806"><div><strong>Neonatal pseudo-hydrocephalic progeroid syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140806</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.">C0406586</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Wiedemann-Rautenstrauch syndrome (WDRTS) is a rare autosomal recessive neonatal progeroid disorder characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment (summary by Toriello, 1990). Average survival in WDRTS is 7 months, although survival into the third decade of life has been reported (Akawi et al., 2013).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/140806">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_98037"><div><strong>Dermatopathia pigmentosa reticularis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98037</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.">C0406778</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Dermatopathia pigmentosa reticularis (DPR) is a rare heritable disorder consisting of a triad of cutaneous findings including reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis (Heimer et al., 1992).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98037">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_324839"><div><strong>Ichthyosis prematurity syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324839</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.">C1837610</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Ichthyosis prematurity syndrome (IPS) is a rare subtype of autosomal recessive congenital ichthyosis, a clinically and genetically heterogeneous group of inherited keratinization disorders. IPS presents with complications at midtrimester of pregnancy leading to prematurity, a thick caseous and desquamating skin, respiratory complications, and persistent eosinophilia. Skin features evolve into a flat follicular hyperkeratosis with atopy (Klar et al., 2004).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/324839">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_343971"><div><strong>Alopecia areata 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343971</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.">C1853104</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/343971">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_388032"><div><strong>Epidermolysis bullosa simplex due to plakophilin deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>388032</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.">C1858302</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Ectodermal dysplasia/skin fragility syndrome (EDSFS) is an autosomal recessive genodermatosis characterized by widespread skin fragility, alopecia, nail dystrophy, and focal keratoderma with painful fissures. Hypohidrosis and cheilitis are sometimes present (summary by Ersoy-Evans et al., 2006).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/388032">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_347890"><div><strong>Bird headed-dwarfism, Montreal type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347890</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.">C1859468</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature greying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/347890">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_400232"><div><strong>ADULT syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400232</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.">C1863204</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/400232">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_400532"><div><strong>H syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400532</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.">C1864445</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The histiocytosis-lymphadenopathy plus syndrome comprises features of 4 histiocytic disorders previously thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC was described as an autosomal recessive disease involving joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes (summary by Morgan et al., 2010). SHML, or familial Rosai-Dorfman disease, was described as a rare cause of lymph node enlargement in children, consisting of chronic massive enlargement of cervical lymph nodes frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. Extranodal sites were involved in approximately 25% of patients, including salivary glands, orbit, eyelid, spleen, and testes. The involvement of retropharyngeal lymphoid tissue sometimes caused snoring and sleep apnea (summary by Kismet et al., 2005). H syndrome was characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss was also found in about half of patients, and many had short stature. PHID was characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome, with hepatosplenomegaly occurring in about half of patients (Cliffe et al., 2009). Bolze et al. (2012) noted that mutations in the SLC29A3 gene (612373) had been implicated in H syndrome, PHID, FHC, and SHML, and that some patients presented a combination of features from 2 or more of these syndromes, leading to the suggestion that these phenotypes should be grouped together as 'SLC29A3 disorder.' Bolze et al. (2012) suggested that the histologic features of the lesions seemed to be the most uniform phenotype in these patients. In addition, the immunophenotype of infiltrating cells in H syndrome patients was shown to be the same as that seen in patients with the familial form of Rosai-Dorfman disease, further supporting the relationship between these disorders (Avitan-Hersh et al., 2011; Colmenero et al., 2012).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/400532">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_355454"><div><strong>Severe combined immunodeficiency due to DCLRE1C deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355454</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.">C1865370</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/355454">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_501218"><div><strong>17q11.2 microduplication syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501218</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.">C3495679</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Syndrome that has characteristics of dysmorphic features and intellectual deficit. It has been described in seven patients within one family. 17q11.2 microduplication encompasses the NF1 region. The underlying mechanism may be non-allelic homologous recombination. The study of pedigree suggests that this microduplication segregates within the family for at least two generations. Two patients displayed a normal clinical presentation, suggesting an autosomal dominant pattern of inheritance with incomplete penetrance.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/501218">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_815337"><div><strong>Cardiofaciocutaneous syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815337</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.">C3809007</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). The hair is typically sparse, curly, fine or thick, and woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Affected individuals typically have some form of neurologic and/or cognitive delay (ranging from mild to severe). Most individuals have severe feeding issues, which can contribute to poor growth, and many require nasogastric or gastrostomy tube feeding. Many affected individuals have eye findings, including strabismus, nystagmus, refractive errors, and optic nerve hypoplasia. Seizures may be present and can be refractory to therapy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/815337">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934598"><div><strong>Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934598</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.">C4310631</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934598">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1642123"><div><strong>Knobloch syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1642123</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.">C4551775</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Knobloch syndrome-1 (KNO1) is an autosomal recessive developmental disorder primarily characterized by typical eye abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment, with occipital skull defects, which can range from occipital encephalocele to occult cutis aplasia (summary by Aldahmesh et al., 2011).&#13; Genetic Heterogeneity of Knobloch Syndrome&#13; KNO2 (618458) is caused by mutation in the PAK2 gene (605022) on chromosome 3q29.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1642123">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1678330"><div><strong>Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1678330</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.">C5193062</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">CAPOK syndrome (CAPOK) is characterized by onset of symptoms in the first year of life, with the development of progressive alopecia, hypo- and hyperpigmented macular skin lesions, palmoplantar keratoderma, and nail dystrophy. Beginning in the third decade of life, patients develop recurrent squamous cell carcinomas. Some patients may have brittle teeth resulting in tooth loss, and multinodular goiter has been observed (Courcet et al., 2015).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1678330">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1811851"><div><strong>Epidermolysis bullosa, junctional 5A, intermediate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1811851</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.">C5676956</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Intermediate junctional epidermolysis bullosa 5A (JEB5A) is an autosomal recessive blistering disease of skin and mucous membranes. Blistering is less severe than in severe JEB (see 226700). The plane of skin cleavage is through the lamina lucida of the cutaneous basement membrane zone. Nails may be dystrophic and dental enamel defects are present. Blistering does not affect the life span of affected individuals (summary by Has et al., 2020).&#13; For a discussion of genetic heterogeneity of the subtypes of JEB, see JEB1A (226650).&#13; Reviews&#13; Has et al. (2020) reviewed the clinical and genetic aspects, genotype-phenotype correlations, disease-modifying factors, and natural history of epidermolysis bullosa.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1811851">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501218" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">17q11.2 microduplication syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">ADULT syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343971" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alopecia areata 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347890" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bird headed-dwarfism, Montreal type</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1678330" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (21)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiofaciocutaneous syndrome 4</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98037" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dermatopathia pigmentosa reticularis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82790" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, type 4</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934598" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_388032" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epidermolysis bullosa simplex due to plakophilin deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1811851" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epidermolysis bullosa, junctional 5A, intermediate</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_91009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Flynn-Aird syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">H syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_66355" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary acrodermatitis enteropathica</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324839" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ichthyosis prematurity syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1642123" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Knobloch syndrome 1</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_140806" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neonatal pseudo-hydrocephalic progeroid syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78097" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Perifolliculitis capitis abscedens et suffodiens</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe combined immunodeficiency due to DCLRE1C deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_12147" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Werner syndrome</a></div></span></div></div>
</div>
<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/38169088">European expert consensus statement on the systemic treatment of alopecia areata.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rudnicka L,
Arenbergerova M,
Grimalt R,
Ioannides D,
Katoulis AC,
Lazaridou E,
Olszewska M,
Ovcharenko YS,
Piraccini BM,
Prohic A,
Rakowska A,
Reygagne P,
Richard MA,
Soares RO,
Starace M,
Vañó-Galvan S,
Waskiel-Burnat A</span><br />
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
2024 Apr;38(4):687-694.
Epub 2024 Jan 2
doi: 10.1111/jdv.19768.
<span class="bold">PMID: </span><a href="/pubmed/38169088" target="_blank">38169088</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34403083">Alopecia Areata: an Update on Etiopathogenesis, Diagnosis, and Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou C,
Li X,
Wang C,
Zhang J</span><br />
<span class="medgenPMjournal">Clin Rev Allergy Immunol</span>
2021 Dec;61(3):403-423.
Epub 2021 Aug 17
doi: 10.1007/s12016-021-08883-0.
<span class="bold">PMID: </span><a href="/pubmed/34403083" target="_blank">34403083</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32622136">Oral minoxidil treatment for hair loss: A review of efficacy and safety.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Randolph M,
Tosti A</span><br />
<span class="medgenPMjournal">J Am Acad Dermatol</span>
2021 Mar;84(3):737-746.
Epub 2020 Jul 2
doi: 10.1016/j.jaad.2020.06.1009.
<span class="bold">PMID: </span><a href="/pubmed/32622136" target="_blank">32622136</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(alopecia%20of%20scalp)%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 (241)</a></div></div>
</div>
<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/35526920">Chemotherapy, Alopecia, and Scalp Cooling Systems.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Amarillo D,
de Boni D,
Cuello M</span><br />
<span class="medgenPMjournal">Actas Dermosifiliogr</span>
2022 Mar;113(3):278-283.
Epub 2021 Oct 12
doi: 10.1016/j.ad.2021.09.003.
<span class="bold">PMID: </span><a href="/pubmed/35526920" target="_blank">35526920</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34403083">Alopecia Areata: an Update on Etiopathogenesis, Diagnosis, and Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou C,
Li X,
Wang C,
Zhang J</span><br />
<span class="medgenPMjournal">Clin Rev Allergy Immunol</span>
2021 Dec;61(3):403-423.
Epub 2021 Aug 17
doi: 10.1007/s12016-021-08883-0.
<span class="bold">PMID: </span><a href="/pubmed/34403083" target="_blank">34403083</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32622629">Scalp cooling to prevent chemotherapy-induced alopecia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Silva GB,
Ciccolini K,
Donati A,
Hurk CVD</span><br />
<span class="medgenPMjournal">An Bras Dermatol</span>
2020 Sep-Oct;95(5):631-637.
Epub 2020 Jun 16
doi: 10.1016/j.abd.2020.03.005.
<span class="bold">PMID: </span><a href="/pubmed/32622629" target="_blank">32622629</a><a href="/pmc/articles/PMC7563013" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30558963">Alopecia areata: A multifactorial autoimmune condition.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Simakou T,
Butcher JP,
Reid S,
Henriquez FL</span><br />
<span class="medgenPMjournal">J Autoimmun</span>
2019 Mar;98:74-85.
Epub 2018 Dec 15
doi: 10.1016/j.jaut.2018.12.001.
<span class="bold">PMID: </span><a href="/pubmed/30558963" target="_blank">30558963</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29601622">A Systematic Review of Topical Finasteride in the Treatment of Androgenetic Alopecia in Men and Women.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lee SW,
Juhasz M,
Mobasher P,
Ekelem C,
Mesinkovska NA</span><br />
<span class="medgenPMjournal">J Drugs Dermatol</span>
2018 Apr 1;17(4):457-463.
<span class="bold">PMID: </span><a href="/pubmed/29601622" target="_blank">29601622</a><a href="/pmc/articles/PMC6609098" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alopecia%20of%20scalp%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 (1104)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/35379508">Lichen planopilaris and frontal fibrosing alopecia: review and update of diagnostic and therapeutic features.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fechine COC,
Valente NYS,
Romiti R</span><br />
<span class="medgenPMjournal">An Bras Dermatol</span>
2022 May-Jun;97(3):348-357.
Epub 2022 Apr 2
doi: 10.1016/j.abd.2021.08.008.
<span class="bold">PMID: </span><a href="/pubmed/35379508" target="_blank">35379508</a><a href="/pmc/articles/PMC9133245" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33648970">Male and female pattern hair loss: Treatable and worth treating.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tamashunas NL,
Bergfeld WF</span><br />
<span class="medgenPMjournal">Cleve Clin J Med</span>
2021 Mar 1;88(3):173-182.
doi: 10.3949/ccjm.88a.20014.
<span class="bold">PMID: </span><a href="/pubmed/33648970" target="_blank">33648970</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33290611">Common causes of hair loss - clinical manifestations, trichoscopy and therapy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Alessandrini A,
Bruni F,
Piraccini BM,
Starace M</span><br />
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
2021 Mar;35(3):629-640.
Epub 2021 Jan 8
doi: 10.1111/jdv.17079.
<span class="bold">PMID: </span><a href="/pubmed/33290611" target="_blank">33290611</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31677111">Female Androgenetic Alopecia: An Update on Diagnosis and Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Starace M,
Orlando G,
Alessandrini A,
Piraccini BM</span><br />
<span class="medgenPMjournal">Am J Clin Dermatol</span>
2020 Feb;21(1):69-84.
doi: 10.1007/s40257-019-00479-x.
<span class="bold">PMID: </span><a href="/pubmed/31677111" target="_blank">31677111</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28300084">Alopecia areata.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pratt CH,
King LE Jr,
Messenger AG,
Christiano AM,
Sundberg JP</span><br />
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
2017 Mar 16;3:17011.
doi: 10.1038/nrdp.2017.11.
<span class="bold">PMID: </span><a href="/pubmed/28300084" target="_blank">28300084</a><a href="/pmc/articles/PMC5573125" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alopecia%20of%20scalp%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 (1258)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/37606849">Alopecia Areata: Current Treatments and New Directions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dahabreh D,
Jung S,
Renert-Yuval Y,
Bar J,
Del Duca E,
Guttman-Yassky E</span><br />
<span class="medgenPMjournal">Am J Clin Dermatol</span>
2023 Nov;24(6):895-912.
Epub 2023 Aug 22
doi: 10.1007/s40257-023-00808-1.
<span class="bold">PMID: </span><a href="/pubmed/37606849" target="_blank">37606849</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35526920">Chemotherapy, Alopecia, and Scalp Cooling Systems.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Amarillo D,
de Boni D,
Cuello M</span><br />
<span class="medgenPMjournal">Actas Dermosifiliogr</span>
2022 Mar;113(3):278-283.
Epub 2021 Oct 12
doi: 10.1016/j.ad.2021.09.003.
<span class="bold">PMID: </span><a href="/pubmed/35526920" target="_blank">35526920</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32622629">Scalp cooling to prevent chemotherapy-induced alopecia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Silva GB,
Ciccolini K,
Donati A,
Hurk CVD</span><br />
<span class="medgenPMjournal">An Bras Dermatol</span>
2020 Sep-Oct;95(5):631-637.
Epub 2020 Jun 16
doi: 10.1016/j.abd.2020.03.005.
<span class="bold">PMID: </span><a href="/pubmed/32622629" target="_blank">32622629</a><a href="/pmc/articles/PMC7563013" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28300084">Alopecia areata.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pratt CH,
King LE Jr,
Messenger AG,
Christiano AM,
Sundberg JP</span><br />
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
2017 Mar 16;3:17011.
doi: 10.1038/nrdp.2017.11.
<span class="bold">PMID: </span><a href="/pubmed/28300084" target="_blank">28300084</a><a href="/pmc/articles/PMC5573125" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24566563">Androgenetic alopecia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Piraccini BM,
Alessandrini A</span><br />
<span class="medgenPMjournal">G Ital Dermatol Venereol</span>
2014 Feb;149(1):15-24.
<span class="bold">PMID: </span><a href="/pubmed/24566563" target="_blank">24566563</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alopecia%20of%20scalp%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 (1426)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/33386567">Alopecia areata: a review on diagnosis, immunological etiopathogenesis and treatment options.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sterkens A,
Lambert J,
Bervoets A</span><br />
<span class="medgenPMjournal">Clin Exp Med</span>
2021 May;21(2):215-230.
Epub 2021 Jan 1
doi: 10.1007/s10238-020-00673-w.
<span class="bold">PMID: </span><a href="/pubmed/33386567" target="_blank">33386567</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33290611">Common causes of hair loss - clinical manifestations, trichoscopy and therapy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Alessandrini A,
Bruni F,
Piraccini BM,
Starace M</span><br />
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
2021 Mar;35(3):629-640.
Epub 2021 Jan 8
doi: 10.1111/jdv.17079.
<span class="bold">PMID: </span><a href="/pubmed/33290611" target="_blank">33290611</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29241771">Alopecia areata: Disease characteristics, clinical evaluation, and new perspectives on pathogenesis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Strazzulla LC,
Wang EHC,
Avila L,
Lo Sicco K,
Brinster N,
Christiano AM,
Shapiro J</span><br />
<span class="medgenPMjournal">J Am Acad Dermatol</span>
2018 Jan;78(1):1-12.
doi: 10.1016/j.jaad.2017.04.1141.
<span class="bold">PMID: </span><a href="/pubmed/29241771" target="_blank">29241771</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29087123">Alopecia Areata. Current situation and perspectives.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Juárez-Rendón KJ,
Rivera Sánchez G,
Reyes-López MÁ,
García-Ortiz JE,
Bocanegra-García V,
Guardiola-Avila I,
Altamirano-García ML</span><br />
<span class="medgenPMjournal">Arch Argent Pediatr</span>
2017 Dec 1;115(6):e404-e411.
doi: 10.5546/aap.2017.eng.e404.
<span class="bold">PMID: </span><a href="/pubmed/29087123" target="_blank">29087123</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24566563">Androgenetic alopecia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Piraccini BM,
Alessandrini A</span><br />
<span class="medgenPMjournal">G Ital Dermatol Venereol</span>
2014 Feb;149(1):15-24.
<span class="bold">PMID: </span><a href="/pubmed/24566563" target="_blank">24566563</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alopecia%20of%20scalp%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 (524)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38169088">European expert consensus statement on the systemic treatment of alopecia areata.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rudnicka L,
Arenbergerova M,
Grimalt R,
Ioannides D,
Katoulis AC,
Lazaridou E,
Olszewska M,
Ovcharenko YS,
Piraccini BM,
Prohic A,
Rakowska A,
Reygagne P,
Richard MA,
Soares RO,
Starace M,
Vañó-Galvan S,
Waskiel-Burnat A</span><br />
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
2024 Apr;38(4):687-694.
Epub 2024 Jan 2
doi: 10.1111/jdv.19768.
<span class="bold">PMID: </span><a href="/pubmed/38169088" target="_blank">38169088</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37833164">Alopecia areata: What's new in the epidemiology, comorbidities, and pathogenesis?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dainichi T,
Iwata M,
Kaku Y</span><br />
<span class="medgenPMjournal">J Dermatol Sci</span>
2023 Dec;112(3):120-127.
Epub 2023 Oct 11
doi: 10.1016/j.jdermsci.2023.09.008.
<span class="bold">PMID: </span><a href="/pubmed/37833164" target="_blank">37833164</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36877877">Melatonin and the Human Hair Follicle.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Babadjouni A,
Reddy M,
Zhang R,
Raffi J,
Phong C,
Mesinkovska N</span><br />
<span class="medgenPMjournal">J Drugs Dermatol</span>
2023 Mar 1;22(3):260-264.
doi: 10.36849/JDD.6921.
<span class="bold">PMID: </span><a href="/pubmed/36877877" target="_blank">36877877</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36067826">Trichoscopy in Alopecia Areata.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gómez-Quispe H,
Muñoz Moreno-Arrones O,
Hermosa-Gelbard Á,
Vañó-Galván S,
Saceda-Corralo D</span><br />
<span class="medgenPMjournal">Actas Dermosifiliogr</span>
2023 Jan;114(1):25-32.
Epub 2022 Sep 5
doi: 10.1016/j.ad.2022.08.018.
<span class="bold">PMID: </span><a href="/pubmed/36067826" target="_blank">36067826</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32351186">Pediatric Alopecia Areata.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Afford R,
Leung AKC,
Lam JM</span><br />
<span class="medgenPMjournal">Curr Pediatr Rev</span>
2021;17(1):45-54.
doi: 10.2174/1573396316666200430084825.
<span class="bold">PMID: </span><a href="/pubmed/32351186" target="_blank">32351186</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alopecia%20of%20scalp%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 (823)</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/37870096">Treatments for alopecia areata: a network meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mateos-Haro M,
Novoa-Candia M,
Sánchez Vanegas G,
Correa-Pérez A,
Gaetano Gil A,
Fernández-García S,
Ortega-Quijano D,
Urueña Rodriguez MG,
Saceda-Corralo D,
Bennouna-Dalero T,
Giraldo L,
Tomlinson J,
Vaño-Galván S,
Zamora J</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2023 Oct 23;10(10):CD013719.
doi: 10.1002/14651858.CD013719.pub2.
<span class="bold">PMID: </span><a href="/pubmed/37870096" target="_blank">37870096</a><a href="/pmc/articles/PMC10591288" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37087083">Biomarkers in alopecia Areata: A systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zaaroura H,
Gilding AJ,
Sibbald C</span><br />
<span class="medgenPMjournal">Autoimmun Rev</span>
2023 Jul;22(7):103339.
Epub 2023 Apr 20
doi: 10.1016/j.autrev.2023.103339.
<span class="bold">PMID: </span><a href="/pubmed/37087083" target="_blank">37087083</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34806223">Update on trichoscopy: Integration of the terminology by systematic approach and a proposal of a diagnostic flowchart.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kinoshita-Ise M,
Sachdeva M</span><br />
<span class="medgenPMjournal">J Dermatol</span>
2022 Jan;49(1):4-18.
Epub 2021 Nov 22
doi: 10.1111/1346-8138.16233.
<span class="bold">PMID: </span><a href="/pubmed/34806223" target="_blank">34806223</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33319363">Dermoscopy of discoid lupus erythematosus - a systematic review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Żychowska M,
Żychowska M</span><br />
<span class="medgenPMjournal">Int J Dermatol</span>
2021 Jul;60(7):818-828.
Epub 2020 Dec 15
doi: 10.1111/ijd.15365.
<span class="bold">PMID: </span><a href="/pubmed/33319363" target="_blank">33319363</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29601622">A Systematic Review of Topical Finasteride in the Treatment of Androgenetic Alopecia in Men and Women.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lee SW,
Juhasz M,
Mobasher P,
Ekelem C,
Mesinkovska NA</span><br />
<span class="medgenPMjournal">J Drugs Dermatol</span>
2018 Apr 1;17(4):457-463.
<span class="bold">PMID: </span><a href="/pubmed/29601622" target="_blank">29601622</a><a href="/pmc/articles/PMC6609098" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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