The first report of krt5 mutation underlying acantholytic dowling-degos disease with mottled hypopigmentation in an Indian family
نویسندگان
چکیده
منابع مشابه
Galli-Galli disease is an acantholytic variant of Dowling-Degos disease: additional genetic evidence in a German family.
lamotrigine-associated anticonvulsant hypersensitivity syndrome [in French]. Rev Neurol (Paris) 2009;165:821-7. 3. Nagai Y, Hattori T, IshikawaO. A case of hypersensitivity syndrome due to phenytoin. J Dermatol 2002;29:670-3. 4. Molg oM, Carre~ noN, Hoyos-Bachiloglu R, AndresenM,Gonz alez S. Use of intravenous immunoglobulin for the treatment of toxic epidermal necrolysis and Stevens-Johnson/to...
متن کاملDowling-Degos disease: Report of a case with pigmentation localized only in the genital area
Dowling –Degos disease is a rare condition. It is inherited by an autosomal dominant gene. It usually presents in adult life as small, pigmented, asymptomatic macules in flexural regions. We report a 35-year-old woman with Dowling- Degos disease, in whom the reticular pigmentation confined to the genital area.
متن کاملAnalysis of POFUT1 Gene Mutation in a Chinese Family with Dowling-Degos Disease
Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmented anomaly mainly affecting flexures. Though KRT5 has been identified to be the causal gene of DDD, the heterogeneity of this disease was displayed: for example, POFUT1 and POGLUT1 were recently identified and confirmed to be additional pathogenic genes of DDD. To identify other DDD causative g...
متن کاملDowling-Degos disease.
Dowling-Degos disease (DDD) is a rare autosomal dominant inherited pigmentary disorder of the flexures with a reticulate aspect and with presence of prominent comedone-like lesions and pitted scars. The diagnosis includes acanthosis nigricans as well as other reticulate pigmentary disorders classified into: dyschromatrosis symmetrica hereditaria (DSH), dyschromatosis universalis hereditaria (DU...
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ژورنال
عنوان ژورنال: Indian Journal of Dermatology
سال: 2014
ISSN: 0019-5154
DOI: 10.4103/0019-5154.139884