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1.
Artículo en Inglés | IMSEAR | ID: sea-159444

RESUMEN

Epidermolysis bullosa (DEB) pruriginosa is a type of dystrophic DEB wherein there is a mutation in gene COL VII A1, which encodes anchoring fibril protein Type VII collagen. Clinically, it is characterized by intensely pruritic linear lichenified or nodular prurigo like lesions over extremities with milia, nail dystrophy, and in some cases albopapuloid lesions over trunk. Here we report a case of an adult onset DEB pruriginosa with typical clinical features which was confirmed by histopathology. In any severely itchy skin lesion over pretibial region, DEB pruriginosa should be kept in mind, and DEB pruriginosa can occur for the first time in adulthood also.


Asunto(s)
Epidermólisis Ampollosa Distrófica/diagnóstico , Epidermólisis Ampollosa Distrófica/tratamiento farmacológico , Epidermólisis Ampollosa Distrófica/epidemiología , Epidermólisis Ampollosa Distrófica/terapia , Femenino , Humanos , Persona de Mediana Edad , Enfermedades de la Uña/epidemiología , Uñas Malformadas/epidemiología
2.
Rev. méd. Chile ; 132(5): 614-618, mayo 2004. ilus
Artículo en Español | LILACS | ID: lil-384421

RESUMEN

We report a female newborn with a dystrophic epidermolysis bullosa. The diagnosis was made by electron microscopy of a bullous skin lesion. The importance of reaching a specific diagnosis is underscored. Close relatives can therefore be informed and educated about prognosis, etiology and the possibility of having new affected offspring. An accurate diagnosis can be reached through electronic microscopy or modern immunohistochemical techniques. Further complementary information given by conventional histology is required. A complete study is recommended to minimize errors in the intepretation of morphology (Rev MÚd Chile 2004; 132: 614-8).


Asunto(s)
Humanos , Femenino , Recién Nacido , Epidermólisis Ampollosa Distrófica/diagnóstico , Epidermólisis Ampollosa Distrófica/etiología , Epidermólisis Ampollosa Distrófica/tratamiento farmacológico , Enfermedades de la Piel
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