European Journal of Biomedical and Pharmaceutical Sciences

A RARE CASE OF HEREDITARY DYSTROPHIC EPIDERMOLYSIS BULLOSA

*Dr. Daya K. Jangam, Dr. Pranjali S. Bende, Dr. Surabhi S. Ausare and Dr. Madhura Jathar

ABSTRACT

Epidermolysis bullosa (EB) is a group of rare inherited skin and mucous membrane disorders which manifests with blistering and erosions of the skin and mucous membranes as the unifying diagnostic feature. It is an acquired disease or inherited as either autosomal – dominant or recessive with an incidence of 1/50 000. The prominent clinical characteristic of the disease is the development of bullae or vesicles in mucosa or skin in response to minor trauma. This paper documents a rare case of a 25 years old male patient diagnosed with hereditary dystrophic epidermolysis bullosa (dominant type). The manifestations were seen as early as 6 months after birth. The clinical features presented with more of skin involvement with blisters and scarring, seen in the upper and lower extremities and flexor surfaces where ever there was lot of friction and dystrophy in toe nails. The oral manifestations were limited to carious teeth and the gingiva seemed to be fragile. The additional rare finding which was seen was papillary hyperplasia of the palate.

Keywords: epidermolysis bullosa, dental caries, dystrophic nails, gingiva, skin, scarring.