Yonsei Med J.  2000 Jun;41(3):411-415. 10.3349/ymj.2000.41.3.411.

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

• Kim DK
• Kim SC
• Chang SN
• Kim SY

• KMID: 711768
• DOI: http://doi.org/10.3349/ymj.2000.41.3.411

Abstract

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.

Keyword

Epidermolysis bullosa simplex; Dowling-Meara; pyloric atresia; urologic abnormalities

MeSH Terms

Case Report
Collagen/metabolism
Epidermolysis Bullosa Simplex/pathology
Epidermolysis Bullosa Simplex/metabolism
Epidermolysis Bullosa Simplex/complications*
Human
Infant, Newborn
Male
Pylorus*/radiography
Stomach Diseases/radiography
Stomach Diseases/complications*
Urologic Diseases/congenital*
Urologic Diseases/complications*