Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease
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چکیده
منابع مشابه
Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease.
Reticulate acropigmentation of Kitamura (RAK) is a rare genetic disorder of cutaneous pigmentation with an autosomal dominant pattern of inheritance and a high penetration rate. The characteristic skin lesions are reticulate, slightly depressed pigmented macules mainly affecting the dorsa of the hands and feet, which first appear before puberty and subsequently expand to the proximal limb and t...
متن کاملCoexistence of reticulate acropigmentation of Kitamura and Dowling-Degos disease
Reticulate acropigmentation of Kitamura (RAK) and Dowling-Degos Disease (DDD) are rare genodermatosis inherited as an autosomal dominant trait with variable penetrance. They are part of a spectrum of diseases with hyperpigmented macules coalescing in a reticular pattern, facial and palmoplantar pits, breaks in dermatoglyphics, comedo-like lesions and epidermoid cysts, and a unique histological ...
متن کاملReticulate Acropigmentation of Kitamura and Nevus of Ito.
6. Rodero Prieto R, Camacho Lovillo MS, Lirola Cruz MJ. Generalized edema as a form of presentation of juvenile dermatomyositis. An Pediatr (Barc). 2013;79:271--2. 7. Zedan M, El-Ayouty M, Abdel-Hady H, Shouman B, El-Assmy M, Fouda A. Anasarca: Not a nephrotic syndrome but dermatomyositis. Eur J Pediatr. 2008;167:831--4. 8. Rafailidis PI, Kapaskelis A, Falagas ME. Periorbital and facial swellin...
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Acrodysostosis is a rare autosomal-dominant condition characterized by facial dysostosis, severe brachydactyly with cone-shaped epiphyses, and short stature. Moderate intellectual disability and resistance to multiple hormones might also be present. Recently, a recurrent mutation (c.1102C>T [p.Arg368*]) in PRKAR1A has been identified in three individuals with acrodysostosis and resistance to mu...
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: Human Molecular Genetics
سال: 2013
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddt207