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.
Beskrivning
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.
Inheritance patterns
The source lists the following possible inheritance patterns: mitochondrial; Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
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
Patient information leaflet
Psoriasis
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.
Patient information leaflet
Reaktiv artrit
Reaktiv artrit is a type of artrit in which you develop inflammation in joints after you have had an infection in some other part of the body. For example, after a bad bout of diarrhoea you might develop a sore knee a couple of weeks later. Symptoms commonly last... It is more serious than conjunctivitis. A scaly skin rash on the hands and.
Patient information leaflet
Somatisering och funktionella störningar
Sometimes there are no obvious reasons for the changes in the way our brain ... This may be more common in situations where someone has very severe pain but where there is no underlying physical cause for that pain. Functional neurological disorder Previously known as conversion disorder, functional neurological disorder (or FND) is a condition.
Patient information leaflet
Trigeminusneuralgi
Also, there is a hi... Stereotactic radiosurgery for trigeminal neuralgia This form of surgery is sometimes known as 'gamma knife' surgery (see above). The National Institute for Health and Care Excellence (NICE) has now reviewed all the studies done on people with trigeminal neuralgia having this treatment. They have concluded that the treatment.
Patient information leaflet
Kolesteatom
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.
Patient information leaflet
För tidigt födda barn
...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.
Vidare läsning och referenser
- 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.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
18 aug 2020 | Senaste versionen
1 Nov 2012 | Ursprungligen publicerad
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