Subject(s)
Child , Male , Hypopigmentation/congenital , Hypopigmentation/epidemiology , Hypopigmentation/genetics , Hyperpigmentation/congenital , Hyperpigmentation/epidemiology , Hyperpigmentation/genetics , Male , Nervous System Diseases/epidemiology , Pigmentation Disorders/congenital , Pigmentation Disorders/epidemiology , Pigmentation Disorders/geneticsABSTRACT
Nevus depigmentosus is a stable and well-circumscribed congenital hypomelanosis that may be in an isolated, dermatomal or systemic form. An 18-yr-old Korean man with segmental nevus depigmentosus developed multiple pigmented nevi which were present only within the confines of the leukoderma. Histologic and electron microscopic studies rendered a diagnosis of nevus depigmentosus with dysplastic nevus to the patient. The genetic alteration of melanocytes in the hypopigmented lesion is assumed to have resulted in the development of multiple pigmented nevi.
Subject(s)
Adolescent , Humans , Male , Hypopigmentation/congenital , Nevus, Pigmented/metabolismABSTRACT
El Síndrome de Waardenburg representa la forma más común de sordera congénita; es una condición pleitrópica, autosómica dominante, con penetrancia y expresividad variable. Se describen dos casos clínicos de Síndrome de Waardenburg tipo II. Las principales manifestaciones son la sordera sensorioneural congénita, alteraciones de la pigmentación pilosa y cutánea, puente nasal ancho, hipertricosis de las cejas, mandíbula cuadrada, encanecimiento prematuro y alteraciones neurológicas. Se revisan los criterios de diagnóstico de la enfermedad y los hallazgos asociados descritos de la literatura
Subject(s)
Humans , Male , Female , Adult , Deafness/congenital , Waardenburg Syndrome/physiopathology , Clinical Diagnosis , Eyebrows/abnormalities , Hair Color , Hypopigmentation/congenital , Hypertrichosis/congenital , Iris/abnormalities , Mandible/abnormalities , Nasal Cavity/abnormalities , Hearing Loss, Sensorineural/congenitalABSTRACT
El presente trabajo se basa en la presentación de un caso de interes en pediatria, dada su extrema rareza en la edad pediátrica.