نتایج جستجو برای: genodermatosis
تعداد نتایج: 344 فیلتر نتایج به سال:
Naked foal syndrome (NFS) is a genodermatosis in the Akhal-Teke horse breed. We provide the first scientific description of this phenotype. Affected horses have almost no hair and show a mild ichthyosis. So far, all known NFS affected horses died between a few weeks and 3 yr of age. It is not clear whether a specific pathology caused the premature deaths. NFS is inherited as a monogenic autosom...
pachyonychia congenital (pc) is a rare autosomal dominant genodermatosis characterized hyperkeratosis affecting the nails and palmoplantar areas, oral leukokeratosis, and cystic lesions. a 39-year-old woman with pc type 1 (jadassohn-lewandowsky syndrome) and b-cell lymphoma is described. no similar disorders or parental consanguinity were found in her family. typical features of pc developed si...
Focal acral hyperkeratosis (FAH) is a rare genodermatosis with an autosomal dominant pattern of inheritance; however, it may also be sporadic. FAH is characterized by late-onset crateriform keratotic papules, some coalescing into plaques, along the borders of the hands and feet. We herein report a case of FAH in a 47-year-old male with a family history of similar lesions in three generations. T...
Pigmented xerodermoid, a rare genodermatosis, presents with clinical features and pathology similar to xeroderma pigmentosum, but at a later age. DNA repair replication is normal, but there is total depression of DNA synthesis after exposure to UV radiation. Two siblings in their teens and a man in his thirties with features of pigmented xerodermoid, e.g. photophobia, freckle-like lesions, kera...
GJB2: gap junction protein b2 KID: keratitis-ichthyosis-deafness INTRODUCTION Keratitis-ichthyosis-deafness (KID) syndrome is a rare genodermatosis with approximately 100 published cases. Although it is classified as an autosomal dominant disorder, more than 90% of cases are caused by sporadic mutations predominantly in gap junction protein b2 (GJB2) on chromosome 13q11-q12 (OMIM 148210). GJB2 ...
Ectodermal dysplasias are conditions that present primary defects in two or more tissues of ectodermal origin and can be classified as hypohidrotic and hidrotic. Hidrotic ectodermal dysplasia or Clouston syndrome is an autosomal dominant genodermatosis and appears as a triad of clinical findings: palmoplantar keratoderma, nail dystrophy, and hypotrichosis. The hair is sparse and brittle. The na...
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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