Naegeli-Franceschetti-Jadassohn syndrome: A rare case
نویسندگان
چکیده
منابع مشابه
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
Naegeli-Franceschetti-Jadassohn syndrome (NFJS) and dermatopathia pigmentosa reticularis (DPR) are two closely related autosomal dominant ectodermal dysplasia syndromes that clinically share complete absence of dermatoglyphics (fingerprint lines), a reticulate pattern of skin hyperpigmentation, thickening of the palms and soles (palmoplantar keratoderma), abnormal sweating, and other subtle dev...
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Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis characterized by hyperkeratosis affecting the nails and palmoplantar areas, oral leucokeratosis, and cystic lesions. It is classically subdivided into two major variants, PC-1 (Jadassohn-Lewandowski syndrome) and PC-2 (Jackson-Lawler syndrome), according to the localization of the mutations in the KRT6A/KRT16 or KRT6B/KRT17...
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متن کاملCT of sebaceous nevus syndrome (Jadassohn disease).
The sebaceous nevus, a congenital sk in disease, was first described in 1895 by Jadassohn [1] and later became known as the organoid nevus syndrome within the grouping of the phacomatoses [2]. In 1957 , Schimmelpenning [3] described its assoc iation with central nervous system, skeletal, and eye lesions. In 1962, Feuerstein and Mims [4] reported a case with epi lepsy and mental retardation . In...
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ژورنال
عنوان ژورنال: Indian Dermatology Online Journal
سال: 2015
ISSN: 2229-5178
DOI: 10.4103/2229-5178.169712