Epidermolysis Bullosa Simplex Dowling-Meara
Journal Title: Journal of IMAB - Annual Proceeding (Scientific Papers) - Year 2008, Vol 14, Issue 1
Abstract
A case with Epidermolysis bullosa simplex Dowling-Meara is presented. It concerns a 20 days breast-fed girl with severe blistering and erosions on the skin formed at birth after minor mechanical trauma. There are no other affected relatives. A medical examination showed normal somatic and visceral status. There were multiple herpetiform grouped bullous and erosive lesions on the face, trunk, upper and lower limbs, palms and soles. The mucous membranes were not affected. There was also a marked nail dystrophy on the fingers and toenails. The electron microscopic examination revealed cytolysis of the basal keratinocytes with clumping of the perinuclear tonofilaments in the lesional skin. Because of the clinical features and the results of the electron microscopic examination of the skin the case here reported should be considered as an Epidermolysis bullosa simplex Dowling-Meara. The child is followed up to the age of three. The course of the disease was benign with a decreased formation of blisters and erosions. The marked nail dystrophy was persistent. There was palmar and plantar hyperkeratosis. The child’s growth, neural and psychic development wsas normal. The early diagnosis of the bullous epidermolysis is helpful in the prognostic assessment of the disease and in the medical and genetic advice for the parents.
Authors and Affiliations
Ivelina Yordanova, Snejina Vassileva, Zdravka Demerjieva, Dimitar Gospodinov, Nikolai Tsankov
Keywords
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- EP ID EP88144
- DOI 10.5272/jimab.14-1-2010.59
- Views 142
- Downloads 0
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