Ectodermal dysplasia-skin fragility syndrome
نویسندگان
چکیده
منابع مشابه
A plakophilin-1 gene mutation in an egyptian family with ectodermal dysplasia-skin fragility syndrome.
Ectodermal dysplasia-skin fragility syndrome (ED-SFS) is a rare genodermatosis caused by mutations in the PKP1 gene, encoding the desmosomal plaque protein plakophilin-1. Since its initial description in 1997, few individuals with this disorder have been reported to date. Here, we present the first Egyptian cases of ED-SFS, carrying a novel homozygous mutation in the PKP1 gene. Direct sequencin...
متن کاملEctodermal dysplasia (ED) syndrome
Ectodermal dysplasia (ED) syndrome comprises a large, heterogeneous group of inherited disorders that are defined by primary defects in the development of 2 or more tissues derived from the embryonic ectoderm. The tissues primarily involved are the skin and its appendages (including hair follicles, eccrine glands, sebaceous glands, nails) and teeth. The clinical features include sparse hair, ab...
متن کاملRapp-Hodgkin ectodermal dysplasia syndrome
Gross R E, Neuhauser E B D. Compression of the trachea by an anomalous innominate artery: an operation for its relief. Am J Dis Child 1948; 75: 570-4. 2 Fearon B, Shortreed R. Tracheobronchial compression by congenital cardiovascular anomalies in children. Syndrome of apnea. Ann Otol Rhinol Laryngol 1963; 72: 949-69. 3 Mustard W T, Bayliss C E, Fearon B, Pelton D, Trusler G A. Tracheal compress...
متن کاملEctrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.
The Ectrodactyly-Ectodermal Dysplasia-Clefting syndrome is also known as the EEC syndrome. The word ectrodactyly is derived from the Greek, and means congenital absence of all or part of a finger or toe. While both hands and both feet are usually involved, exceptions have been noted in that one hand may be normal and, rarely, all extremities are normal. Tear ducts are abnormal in most affected ...
متن کاملDeficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
In humans, congenital and hereditary skin diseases associated with epidermal cell-cell separation (acantholysis) are very rare, and spontaneous animal models of these diseases are exceptional. Our objectives are to report a novel congenital acantholytic dermatosis that developed in Chesapeake Bay retriever dogs. Nine affected puppies in four different litters were born to eight closely related ...
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ژورنال
عنوان ژورنال: Indian Journal of Dermatology, Venereology, and Leprology
سال: 2011
ISSN: 0378-6323
DOI: 10.4103/0378-6323.82415