Vohwinkel syndrome
آخر تحديث 18 Aug 2020
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Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin.
الوصف
Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin.
In the classic form of Vohwinkel syndrome, affected individuals have thick, honeycomb-like calluses on the palms of the hands and soles of the feet (palmoplantar keratoses) beginning in infancy or early childhood. Affected children also typically have distinctive starfish-shaped patches of thickened skin on the tops of the fingers and toes or on the knees. Within a few years they develop tight bands of abnormal fibrous tissue around their fingers and toes (pseudoainhum); the bands may cut off the circulation to the digits and result in spontaneous amputation. People with the classic form of the disorder also have hearing loss.
The variant form of Vohwinkel syndrome does not involve hearing loss, and the skin features also include widespread dry, scaly skin (ichthyosis), especially on the limbs. The ichthyosis is usually mild, and there may also be mild reddening of the skin (erythroderma). Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Congenital deafness with keratopachydermia and constrictions of fingers and toes
Keratoderma hereditarium mutilans
KHM
Mutilating keratoderma
Palmoplantar keratoderma mutilans
Palmoplantar keratoderma mutilans Vohwinkel
PPK mutilans Vohwinkel
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قراءة إضافية ومراجع
- Vohwinkel syndrome; MedlinePlus, National Library of Medicine.
- de Zwart-Storm EA, van Geel M, Veysey E, Burge S, Cooper S, Steijlen PM, Martin PE, van Steensel MA. A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome. Br J Dermatol. 2011 Jan;164(1):197-9. doi: 10.1111/j.1365-2133.2010.10058.x.
- Drera B, Tadini G, Balbo F, Marchese L, Barlati S, Colombi M. De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma. Clin Genet. 2008 Jan;73(1):85-8. doi: 10.1111/j.1399-0004.2007.00914.x. Epub 2007 Oct 22. No abstract available.
- Elias PM, Williams ML, Crumrine D, Schmuth M. Inherited disorders of corneocyte proteins. Curr Probl Dermatol. 2010;39:98-131. doi: 10.1159/000321086. Epub 2010 Sep 14. No abstract available.
- Gedicke MM, Traupe H, Fischer B, Tinschert S, Hennies HC. Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature. Br J Dermatol. 2006 Jan;154(1):167-71. doi: 10.1111/j.1365-2133.2005.06995.x.
- 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.
- Maestrini E, Monaco AP, McGrath JA, Ishida-Yamamoto A, Camisa C, Hovnanian A, Weeks DE, Lathrop M, Uitto J, Christiano AM. A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. Nat Genet. 1996 May;13(1):70-7. doi: 10.1038/ng0596-70.
- O'Driscoll J, Muston GC, McGrath JA, Lam HM, Ashworth J, Christiano AM. A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome. Clin Exp Dermatol. 2002 May;27(3):243-6. doi: 10.1046/j.1365-2230.2002.01031.x.
- Schmuth M, Fluhr JW, Crumrine DC, Uchida Y, Hachem JP, Behne M, Moskowitz DG, Christiano AM, Feingold KR, Elias PM. Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis). J Invest Dermatol. 2004 Apr;122(4):909-22. doi: 10.1111/j.0022-202X.2004.22431.x.
- Schmuth M, Gruber R, Elias PM, Williams ML. Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders. Adv Dermatol. 2007;23:231-56. doi: 10.1016/j.yadr.2007.07.011.
- Sinha M, Watson SB. Keratoderma hereditarium mutilans (Vohwinkel syndrome). J Hand Surg Eur Vol. 2009 Apr;34(2):235-7. doi: 10.1177/1753193408098901. Epub 2009 Mar 12.
- van Steensel MA. Gap junction diseases of the skin. Am J Med Genet C Semin Med Genet. 2004 Nov 15;131C(1):12-9. doi: 10.1002/ajmg.c.30030.
- 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.
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المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
18 Aug 2020 | أحدث إصدار
1 Nov 2012 | نُشر في الأصل
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