Palmoplantar keratoderma with deafness
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Palmoplantar keratoderma with deafness is a disorder characterised 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.
Descrizione
Palmoplantar keratoderma with deafness is a disorder characterised 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.
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.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: mitochondrial; Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Altri nomi
Palmoplantar hyperkeratosis-deafness syndrome
Palmoplantar hyperkeratosis-hearing loss syndrome
Palmoplantar keratoderma-deafness syndrome
Palmoplantar keratoderma-hearing loss syndrome
PPK with deafness
PPK-deafness syndrome
Related patient information and medicines
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Psoriasi
Nail psoriasis About half of people with any type of psoriasis also get fingernail psoriasis. In some people toenails are also affected. It usually just affects the palms of the hands and soles of the feet. (It is sometimes called palmoplantar pustulosis.). Affected skin develops crops of pustules, which are small fluid-filled spots. Rarely, a.
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Colesteatoma
If the dead cells become trapped and form a collection, this build-up of dead skin cells over time can form a cholesteatoma. A cholesteatoma is not a type of cancer, but it is still important because, if untreated, it can lead to serious complications such as permanent deafness, damage to nearby nerves and life-threatening illnesses such as.
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Bambini prematuri
...cerebral palsy, blindness or deafnessOne study of 241 children born before 26 weeks of gestation found: 1 in 5 had severe disability (for example, cerebral palsy + not walking, low cognitive scores, blindness, profound deafness). 1 in 4 had moderate disability (for example, cerebral palsy + walking, IQ/cognitive scores in the special needs.
Ulteriori letture e riferimenti
- Palmoplantar keratoderma with deafness; MedlinePlus, National Library of Medicine.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
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