Enfermedad de Darier: comunicación de 4 casos

La enfermedad de Darier (o disqueratosis folicular) es una genodermatosis de herencia autosomica dominante poco frecuente, en la que existe una mutacion del gen que codifica la enzima calcio ATPasa del reticulo endoplasmico, que se expresa en piel y cerebro. Se caracteriza por la perdida de adhesion entre los queratinocitos epidermicos suprabasales y una queratinizacion anormal en piel, unas y mucosas. Clinicamente se manifiesta con papulas eritematoparduzcas queratosicas localizadas en areas seborreicas, papulas y hoyuelos palmoplantares, papulas blanquecinas en mucosa oral y alteraciones ungueales. A nivel histopatologico, se observa disqueratosis acantolitica, hendiduras suprabasales, cuerpos redondos y granos. Pueden asociarse a esta entidad trastornos auditivos y neuropsiquiatricos, principalmente en pacientes con antecedentes familiares de enfermedad de Darier. Presentamos 4 pacientes, 2 masculinos y 2 femeninos, de entre 30 y 61 anos de edad, que presentaron hallazgos clinicos e histopatologicos de enfermedad de Darier, desde la segunda decada de la vida. Solo uno refirio antecedentes familiares de esta entidad. Una paciente presento un sindrome depresivo durante su seguimiento. Tres de ellos realizaron tratamientos con retinoides topicos y solo uno con retinoides sistemicos con mejoria parcial en todos los casos. Palabras clave: enfermedad de Darier, disqueratosis folicular, ATP2A2 Darier’s disease: a report of four cases Darier Disease or keratosis follicularis is an uncommon genodermatosis inherited in an autosomal dominant pattern, characterized by mutations in the gene ATP2A2 which encodes the reticulum endoplasmic enzyme calcium ATPase expressed in skin and brain. Clinical features of this disorder are: keratotic papules located in seborrheic areas, palmoplantar papules and pits, white papules on oral mucosa and nail abnormalities. There may be an association with hearing and neuropsychiatric disorders, especially in patients with a family history of Darier disease. This disorder is histologically characterized by loss of adhesion between the suprabasal epidermal keratinocytes (suprabasal clefts), aberrant epidermal keratinization (focal acantholitic dyskeratosis), round bodies and grains. We present 4 patients, 2 male and 2 female, aged between 30 and 61 years old, who had clinical and histopathologic findings of Darier’s disease, since the second decade of their lives. Just one of them referred family history of this condition. One patient presented a depressive syndrome during his follow-up. Three of them were treated with topical retinoids and the other one with systemic retinoids with partial improvement in all of them.