Epidermolisis bulosa distrófica pruriginosa dominante / Dominant dystrophic epidermolysis bullosa pruriginosa

La epidermólisis bulosa distrófica es un trastorno hereditario poco frecuente y clínicamente heterogéneo. Una variante clínica inusual es la epidermolisis bulosa pruriginosa (EBP), que se caracteriza por prurito intenso y lesiones similares a prurigo nodular o liquen simple crónico; y también por la fragilidad de la piel puede conducir a hipertrofia, liquenificación, nódulos y placas. Como en las otras formas de epidermólisis bulosa distrófica, las lesiones se localizan principalmente en extremidades; la patología molecular implica mutaciones en el gen que codifica la proteína fibrilar de anclaje, el colágeno tipo VII (COL7A1). Reportamos el caso de un paciente adulto sin antecedentes patológicos con compromiso cutáneo cuyo tratamiento resultó insatisfactorio, siendo pocos los aportes de la literatura en el manejo exitoso de esta patología.

Dystrophic epidermolysis bullosa is a rare, hereditary, clinically heterogeneous skin disorder. Epidermolysis bullosa pruriginosa is an unusual clinical variant characterized by severe pruritus and simplex lichenoid or nodular prurigo-like lesions; and also by the skin fragility that may lead to hypertrophic, lichenified nodules and plaques. Like other forms of dystrophic epidermolysis bullosa, lesions are located primarily in extremities; molecular pathology involves mutations in the gene encoding the anchoring fibril protein, type VII collagen (COL7A1). We report a case of a previously healthy male adult patient with skin lesions, whose treatment was unsatisfactory, with few contributions from the literature in the successful management of this disease.

Dominant Dystrophic Epidermolysis Bullosa / 대한피부과학회지

Dystrophic epidermolysis bullosa is a rare, chronic non-inflammatory bullous disease with a hereditary pattern of occurrence, and this disease easily produces bullae that heal with scarring and milium formation. A 13-month-old female baby was brought to the department of dermatology with multiple variable sized bullae and erythematous to dark brownish patches and crusts on both her feet. The histopathologic findings showed subepidermal non-inflammatory blisters and the electron microscopic findings showed vacuolization of the sublamina densa and broken anchoring fibrils. On the basis of the clinical and microscopic findings, she was diagnosed as having dominant dystrophic epidermolysis bullosa. We report here on a case of dominant dystrophic epidermolysis bullosa with the clinical, histological and electron microscopic findings, as well as the family history of the patient.