RESUMEN
A 6-year-old girl presented for evaluation of skin discoloration. Examination revealed oval and oblong hypopigmented macules on her trunk and extremities. Cytogenetic studies and immunohistochemistry of biopsies from normally pigmented and hypopigmented skin revealed mosaicism for partial tetrasomy for 13q with low melanocyte levels in lesional skin. The patient was diagnosed with phylloid hypomelanosis (PH), a distinct clinical entity linked to abnormalities in chromosome 13. This article reviews the literature regarding PH and supports the notion that mosaicism of the melanocyte region of chromosome 13q is responsible for PH.
Asunto(s)
Anomalías Múltiples/diagnóstico , Cromosomas Humanos Par 13 , Hipopigmentación/genética , Mosaicismo , Tetrasomía/genética , Anomalías Múltiples/genética , Biopsia con Aguja , Niño , Citogenética , Femenino , Estudios de Seguimiento , Humanos , Hipopigmentación/diagnóstico , Inmunohistoquímica , Hibridación in Situ , Enfermedades Raras , Tetrasomía/diagnósticoRESUMEN
Like other diseases of the follicular occlusion tetrad, acne conglobata can be difficult to treat. We describe the successful use of modern external beam radiation for acne conglobata in the case of a 53-year-old man with long-standing and disfiguring acne conglobata and hidradenitis suppurativa. For patients with severe acne conglobata resistant to more accepted therapies, modern external beam radiation may be a viable alternative on the therapeutic ladder.