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<span>Palmoplantar keratoderma with deafness</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/palmoplantar-keratoderma-with-deafness/</span>
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<h1>Palmoplantar keratoderma with deafness</h1>
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<h2>Description</h2>
<section><div class="mp-content"><p>Palmoplantar keratoderma with deafness is a disorder characterized by skin abnormalities and hearing loss. Affected individuals develop unusually thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma) beginning in childhood. Hearing loss ranges from mild to profound. It begins in early childhood and gets worse over time. Affected individuals have particular trouble hearing high-pitched sounds.</p><p>The signs and symptoms of this disorder may vary even within the same family, with some individuals developing only skin abnormalities and others developing only hearing loss.</p></div>
</section>
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<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>Palmoplantar keratoderma with deafness is a rare disorder; its prevalence is unknown. At least 10 affected families have been identified.</p></div>
</section>
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<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>Palmoplantar keratoderma with deafness can be caused by mutations in the <i><a data-pid="17209" href="https://medlineplus.gov/genetics/gene/gjb2/">GJB2</a></i> or <i><a data-pid="17659" href="https://medlineplus.gov/genetics/gene/mt-ts1/">MT-TS1</a></i> genes.</p><p>The <i>GJB2</i> gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin 26. Connexin 26 is a member of the connexin protein family. Connexin proteins form channels called gap junctions that permit the transport of nutrients, charged atoms (ions), and signaling molecules between neighboring cells that are in contact with each other. Gap junctions made with connexin 26 transport potassium ions and certain small molecules.</p><p>Connexin 26 is found in cells throughout the body, including the <a class="image-modal" data-alt="Basic anatomy of the ear, from the outer ear to the inner ear" data-caption="" data-credit="Blamb/Shutterstock.com" data-filepath="images/PX000170_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000170" data-sourceurl="" data-title="Anatomy of a normal ear" href="https://medlineplus.gov/images/PX000170_PRESENTATION.jpeg" id="PX000170_3" title="Show image">inner ear<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> and the skin. In the inner ear, channels made from connexin 26 are found in a snail-shaped structure called the cochlea. These channels may help to maintain the proper level of potassium ions required for the conversion of sound waves to electrical nerve impulses. This conversion is essential for normal hearing. In addition, connexin 26 may be involved in the maturation of certain cells in the cochlea. Connexin 26 also plays a role in the growth, maturation, and stability of the outermost layer of skin (the <a class="image-modal" data-alt="Anatomy of the skin, showing the epidermis, dermis, and subcutaneous tissue." data-caption="Anatomy of the skin, showing the epidermis, dermis, and subcutaneous tissue." data-credit="© 2008 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX00025F_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00025F" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=7280" data-title="Skin anatomy" href="https://medlineplus.gov/images/PX00025F_PRESENTATION.jpeg" id="PX00025F_4" title="Show image">epidermis<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>).</p><p>The <i>GJB2</i> gene mutations that cause palmoplantar keratoderma with deafness change single protein building blocks (<a class="image-modal" data-alt="A string of amino acids forming a polypeptide chain." data-caption="Amino acids are a set of 20 different molecules used to build proteins. Proteins consist of one or more chains of amino acids called polypeptides. The sequence of the amino acid chain causes the polypeptide to fold into a shape that is biologically active. The amino acid sequences of proteins are encoded in the genes." data-credit="Darryl Leja, NHGRI" data-filepath="images/PX0000IS_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000IS" data-sourceurl="" data-title="Amino acids" href="https://medlineplus.gov/images/PX0000IS_PRESENTATION.jpeg" id="PX0000IS_5" title="Show image">amino acids<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) in connexin 26. The altered protein probably disrupts the function of normal connexin 26 in cells, and may interfere with the function of other connexin proteins. This disruption could affect skin growth and also impair hearing by disturbing the conversion of sound waves to nerve impulses.</p><p>Palmoplantar keratoderma with deafness can also be caused by a mutation in the <i>MT-TS1</i> gene. This gene provides instructions for making a particular type of RNA, a molecule that is a chemical cousin of DNA. This type of RNA, called <a class="image-modal" data-alt="Transfer RNA (tRNA) is a small RNA molecule that participates in protein synthesis." data-caption="Transfer RNA (tRNA) is a small RNA molecule that participates in protein synthesis. Each tRNA molecule has two important areas: a trinucleotide region called the anticodon and a region for attaching a specific amino acid. During translation, each time an amino acid is added to the growing chain, a tRNA molecule forms base pairs with its complementary sequence on the messenger RNA (mRNA) molecule, ensuring that the appropriate amino acid is inserted into the protein." data-credit="Darryl Leja, NHGRI" data-filepath="images/PX0000HK_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000HK" data-sourceurl="" data-title="Transfer RNA (tRNA)" href="https://medlineplus.gov/images/PX0000HK_PRESENTATION.jpeg" id="PX0000HK_6" title="Show image">transfer RNA (tRNA)<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, helps assemble amino acids into full-length, functioning proteins. The <i>MT-TS1</i> gene provides instructions for a specific form of tRNA that is designated as tRNA<sup>Ser(UCN)</sup>. This molecule attaches to a particular amino acid, serine (Ser), and <a class="image-modal" data-alt="The mRNA strand is surrounded by the large ribosomal subunit and the small ribosomal subunit. tRNA, working with the large ribosomal subunit, adds a peptide to the growing polypeptide chain." data-caption="" data-credit="Alila Medical Media/Shutterstock.com" data-filepath="images/PX0000Q4_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000Q4" data-sourceurl="" data-title="Ribosome interacting with RNA molecules to advance protein translation" href="https://medlineplus.gov/images/PX0000Q4_PRESENTATION.jpeg" id="PX0000Q4_7" title="Show image">inserts it into the appropriate locations<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> in many different proteins.</p><p>The tRNA<sup>Ser(UCN)</sup> molecule is present only in cellular structures called <a class="image-modal" data-alt="Mitochondria are structures within the cell cytoplasm." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00004O_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00004O" data-sourceurl="" data-title="Mitochondria" href="https://medlineplus.gov/images/PX00004O_PRESENTATION.jpeg" id="PX00004O_8" title="Show image">mitochondria<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. These structures convert energy from food into a form that cells can use. Through a process called <a class="image-modal" data-alt="Diagram of the series of reactions in the process of oxidative phosphorylation." data-caption="" data-credit="ellepigrafica/Shutterstock.com" data-filepath="images/PX000198_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000198" data-sourceurl="" data-title="Oxidative phosphorylation" href="https://medlineplus.gov/images/PX000198_PRESENTATION.jpeg" id="PX000198_9" title="Show image">oxidative phosphorylation<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, mitochondria use oxygen, simple sugars, and fatty acids to create adenosine triphosphate (ATP), the cell's main energy source. The tRNA<sup>Ser(UCN)</sup> molecule is involved in the assembly of proteins that carry out oxidative phosphorylation.</p><p>The <i>MT-TS1</i> gene mutation that causes palmoplantar keratoderma with deafness leads to reduced levels of tRNA<sup>Ser(UCN)</sup> to assemble proteins within mitochondria. Reduced production of proteins needed for oxidative phosphorylation may impair the ability of mitochondria to make ATP. Researchers have not determined why the effects of the mutation are limited to cells in the inner ear and the skin in this condition.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the genes associated with Palmoplantar keratoderma with deafness</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/gjb2/">GJB2</a></li>
<li><a href="https://medlineplus.gov/genetics/gene/mt-ts1/">MT-TS1</a></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="inheritance">
<h2>Inheritance</h2>
<section><div class="mp- mp-content"><p>Palmoplantar keratoderma with deafness can have different inheritance patterns.</p><p>When this disorder is caused by <i><a data-pid="17209" href="https://medlineplus.gov/genetics/gene/gjb2/">GJB2</a></i> gene mutations, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from <a class="image-modal" data-alt="A parent with an autosomal dominant condition passes the altered gene to two affected children. Two other children do not receive the altered gene, and are unaffected." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00009C_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00009C" data-sourceurl="" data-title="Autosomal dominant inheritance" href="https://medlineplus.gov/images/PX00009C_PRESENTATION.jpeg" id="PX00009C_2" title="Show image">one affected parent<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. Other cases result from <a class="image-modal" data-alt="Neither parent has the mutated gene. A spontaneous mutation occurs during the formation of an egg or sperm cell during embryonic development, leading to an affected child." data-caption="
" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0000A8_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000A8" data-sourceurl="" data-title="Autosomal dominant inheritance with a new (de novo) mutation" href="https://medlineplus.gov/images/PX0000A8_PRESENTATION.jpeg" id="PX0000A8_3" title="Show image">new mutations in the gene<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> and occur in people with no history of the disorder in their family.</p><p>When palmoplantar keratoderma with deafness is caused by mutations in the <i><a data-pid="17659" href="https://medlineplus.gov/genetics/gene/mt-ts1/">MT-TS1</a></i> gene, it is inherited in a <a class="image-modal" data-alt="The inheritance of a mitochondrial disorder depends whether the mother or the father has the mutation in mitochondrial DNA." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00005K_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00005K" data-sourceurl="" data-title="Mitochondrial inheritance" href="https://medlineplus.gov/images/PX00005K_PRESENTATION.jpeg" id="PX00005K_5" title="Show image">mitochondrial pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in <a class="image-modal" data-alt="Mitochondrial DNA is the small circular chromosome found inside mitochondria." data-caption="Mitochondrial DNA is the small circular chromosome found inside mitochondria. The mitochondria are organelles found in cells that are the sites of energy production. The mitochondria, and thus mitochondrial DNA, are passed from mother to offspring." data-credit="Darryl Leja, NHGRI" data-filepath="images/PX0000HG_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000HG" data-sourceurl="" data-title="Mitochondrial DNA" href="https://medlineplus.gov/images/PX0000HG_PRESENTATION.jpeg" id="PX0000HG_6" title="Show image">mitochondrial DNA (mtDNA)<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children.</p></div>
</section>
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<div class="mp-exp exp-full" data-bookmark="synonyms">
<h2>Other Names for This Condition</h2>
<section>
<ul class="bulletlist">
<li>Palmoplantar hyperkeratosis-deafness syndrome</li> <li>Palmoplantar hyperkeratosis-hearing loss syndrome</li> <li>Palmoplantar keratoderma-deafness syndrome</li> <li>Palmoplantar keratoderma-hearing loss syndrome</li> <li>PPK with deafness</li> <li>PPK-deafness syndrome</li>
</ul>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="resources">
<h2>Additional Information & Resources</h2>
<section>
<div class="mp-content">
<h2>Genetic Testing Information</h2>
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C1835672/" target="TheNewWin">Genetic Testing Registry: Palmoplantar keratoderma-deafness syndrome</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Genetic and Rare Diseases Information Center</h2>
<ul>
<li><a href="https://rarediseases.info.nih.gov/diseases/3094/index" target="TheNewWin">Palmoplantar keratoderma-deafness syndrome</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Patient Support and Advocacy Resources</h2>
<ul>
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Catalog of Genes and Diseases from OMIM</h2>
<ul>
<li><a href="https://omim.org/entry/148350" target="TheNewWin">KERATODERMA, PALMOPLANTAR, WITH DEAFNESS</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Scientific Articles on PubMed</h2>
<ul>
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28Keratoderma,+Palmoplantar%5BMAJR%5D%29+AND+%28palmoplantar+keratoderma+AND+deafness%5BTIAB%5D%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+3600+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="references">
<h2>References</h2>
<section>
<div class="mp-content">
<ul>
<li>Birkenhager R, Lublinghoff N, Prera E, Schild C, Aschendorff A, Arndt S.
Autosomal dominant prelingual hearing loss with palmoplantar keratoderma
syndrome: Variability in clinical expression from mutations of R75W and R75Q in
the GJB2 gene. Am J Med Genet A. 2010 Jul;152A(7):1798-802. doi:
10.1002/ajmg.a.33464. <a href="https://pubmed.ncbi.nlm.nih.gov/20583176" target="TheNewWin">Citation on PubMed</a></li>
<li>Caria H, Matos T, Oliveira-Soares R, Santos AR, Galhardo I, Soares-Almeida L,
Dias O, Andrea M, Correia C, Fialho G. A7445G mtDNA mutation present in a
Portuguese family exhibiting hereditary deafness and palmoplantar keratoderma. J
Eur Acad Dermatol Venereol. 2005 Jul;19(4):455-8. doi:
10.1111/j.1468-3083.2005.01087.x. <a href="https://pubmed.ncbi.nlm.nih.gov/15987292" target="TheNewWin">Citation on PubMed</a></li>
<li>de Zwart-Storm EA, Hamm H, Stoevesandt J, Steijlen PM, Martin PE, van Geel M,
van Steensel MA. A novel missense mutation in GJB2 disturbs gap junction protein
transport and causes focal palmoplantar keratoderma with deafness. J Med Genet.
2008 Mar;45(3):161-6. doi: 10.1136/jmg.2007.052332. Epub 2007 Nov 9. <a href="https://pubmed.ncbi.nlm.nih.gov/17993581" target="TheNewWin">Citation on PubMed</a></li>
<li>de Zwart-Storm EA, van Geel M, van Neer PA, Steijlen PM, Martin PE, van
Steensel MA. A novel missense mutation in the second extracellular domain of
GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with
deafness. Am J Pathol. 2008 Oct;173(4):1113-9. doi: 10.2353/ajpath.2008.080049.
Epub 2008 Sep 11. <a href="https://pubmed.ncbi.nlm.nih.gov/18787097" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2543078/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Feldmann D, Denoyelle F, Blons H, Lyonnet S, Loundon N, Rouillon I, Hadj-Rabia
S, Petit C, Couderc R, Garabedian EN, Marlin S. The GJB2 mutation R75Q can cause
nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with
deafness. Am J Med Genet A. 2005 Aug 30;137(2):225-7. doi: 10.1002/ajmg.a.30765.
No abstract available. <a href="https://pubmed.ncbi.nlm.nih.gov/16059934" target="TheNewWin">Citation on PubMed</a></li>
<li>Iossa S, Chinetti V, Auletta G, Laria C, De Luca M, Rienzo M, Giannini P,
Delfino M, Ciccodicola A, Marciano E, Franze A. New evidence for the correlation
of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with
palmoplantar keratoderma. Am J Med Genet A. 2009 Feb 15;149A(4):685-8. doi:
10.1002/ajmg.a.32462. <a href="https://pubmed.ncbi.nlm.nih.gov/18688874" target="TheNewWin">Citation on PubMed</a></li>
<li>Lee JR, White TW. Connexin-26 mutations in deafness and skin disease. Expert
Rev Mol Med. 2009 Nov 19;11:e35. doi: 10.1017/S1462399409001276. <a href="https://pubmed.ncbi.nlm.nih.gov/19939300" target="TheNewWin">Citation on PubMed</a></li>
<li>Lee JY, In SI, Kim HJ, Jeong SY, Choung YH, Kim YC. Hereditary palmoplantar
keratoderma and deafness resulting from genetic mutation of Connexin 26. J Korean
Med Sci. 2010 Oct;25(10):1539-42. doi: 10.3346/jkms.2010.25.10.1539. Epub 2010
Sep 17. <a href="https://pubmed.ncbi.nlm.nih.gov/20890442" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2946671/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Maasz A, Komlosi K, Hadzsiev K, Szabo Z, Willems PJ, Gerlinger I, Kosztolanyi
G, Mehes K, Melegh B. Phenotypic variants of the deafness-associated
mitochondrial DNA A7445G mutation. Curr Med Chem. 2008;15(13):1257-62. doi:
10.2174/092986708784534910. <a href="https://pubmed.ncbi.nlm.nih.gov/18537605" target="TheNewWin">Citation on PubMed</a></li>
<li>Xu J, Nicholson BJ. The role of connexins in ear and skin physiology -
functional insights from disease-associated mutations. Biochim Biophys Acta. 2013
Jan;1828(1):167-78. doi: 10.1016/j.bbamem.2012.06.024. Epub 2012 Jul 13. <a href="https://pubmed.ncbi.nlm.nih.gov/22796187" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3521577/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Yuan Y, Huang D, Yu F, Zhu X, Kang D, Yuan H, Han D, Dai P. A de novo GJB2
(connexin 26) mutation, R75W, in a Chinese pedigree with hearing loss and
palmoplantar keratoderma. Am J Med Genet A. 2009 Feb 15;149A(4):689-92. doi:
10.1002/ajmg.a.32461. No abstract available. <a href="https://pubmed.ncbi.nlm.nih.gov/18924167" target="TheNewWin">Citation on PubMed</a></li>
</ul>
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