Two Cases of Epidermolysis Bullosa Simplex (Dowling-Meara Type) / 대한피부과학회지

The Dowling-Meara type of epidermolysis bullosa simplex is a rare genodermatosis transmitted by autosomal dominant pattern. It starts during the first 3 months of life and is characterized by generalized bullae in a herpetiform pattern. We report two cases of Dowling-Meara type of epidermolysis bullosa simplex. The first case is an 18-year-old male patient who showed bullae in a herpetiform arrangement on the dorsa of both hands, forearms, and trunk, hyperkeratosis on the palms and soles, postinflammatory hypo- and hyperpigmentations, and dystrophy of finger and toe nails. The second case is a 1-month-old boy who showed multiple bullae in a herpetiform and confluent arrangement scattered on the whole body, particularly on the dorsa of both feet and hands. Microscopically and electro-microscopically, two cases all showed intraepidermal blisters formed within the basal keratinocyte in association with clumping of the tonofilaments and cytolysis of the basal cells.

Epidermolysis bullosa simplex (Dowling-Meara type) associated with pyloric atresia and congenital urologic abnormalities

We report a case of epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM), which was associated with congenital pyloric atresia (PA) and various urologic abnormalities, a diagnosis confirmed by immunofluorescence mapping and electron microscopic findings. Immunofluorescent mapping showed the serum from a patient with bullous pemphigoid faintly binding to the floor of the blister, and monoclonal antibodies against type IV and VII collagens were also stained on the floor of the blister. Electron microscopy showed epidermolytic cleavage and prominent clumping of tonofilaments in the basal and suprabasal keratinocytes. An abdominal radiograph and barium swallow showed a complete obstruction at the pyloric channel level. The widespread bullae healed without any scar formation and the bullae formation was localized on the extremities after 3 months of age without any specific treatment. Multiple urologic abnormalities such as bilateral hydronephrosis, hydroureter and a distended bladder with trabeculation were observed at 12 months of age. Currently, with the patient at 4 years of age, bullae still appear on the hands and feet and nail shedding can be observed. The patient's father, a paternal uncle and a paternal aunt had had similar bullous eruptions in infancy, all of which had improved spontaneously by the age of one.

A Case of Epidermolysis Bullosa Simplex ( Dowling - Meara Type ) / 대한피부과학회지

The Dowling-Meara type of epidermolysis bullosa simplex(EBS) is genetic disease that is transmitted as an autosomal dominant trait and is charscterized clinically by pherpetiform clustering of blisters and palmo-plantar keratoderma. The disease usually presents at with or in early infancy. Although serious and hemorrhagic Wers may occur on any part of the body, the lesions heal without scaning in general. The disease shows a tendency to improve by progressian of age and it usually follows a relatively benign course. Microecopically, there are intraepidermal bli.ter s forming as a result of cytolysis of basal cells. In addition, the is a highly characteristic clumping of tonofilaments of keratinocytes in the lower epidermis, which is not seen in any other form of EBS. We report a case of Dowling-Meara type of EBS that is first destribed in Korean medical literatures.