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A Case of Dyskeratosis Congenita
Annals of Dermatology ; : 56-59, 2000.
Artículo en Inglés | WPRIM | ID: wpr-114155
ABSTRACT
Dyskeratosis congenita is a rare genodermatosis of ectodermal dysplasia, which is characterized by the diagnostic triad consisting of reticulated hyperpigmentation, dystrophic nails, and leukoplakia. There is a predisposition to malignancy, particularly at sites of leukoplakia. Bone marrow failure can occur in about a half of the cases. A 16-year-old boy was presented with asymptomatic reticulated pigmentation of the neck and nail dystrophy. The patient also had leukoplakia on the tongue, nasolacrimal duct obstruction and cataract. The histopathological findings taken from the reticulated lesion were consistent with poikiloderma atrophicans vasculare. These clinical and histopathological findings were typical features of dyskeratosis congenita.
Asunto(s)

Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Lengua / Médula Ósea / Catarata / Pigmentación / Displasia Ectodérmica / Hiperpigmentación / Disqueratosis Congénita / Leucoplasia / Conducto Nasolagrimal / Cuello Límite: Adolescente / Humanos / Masculino Idioma: Inglés Revista: Annals of Dermatology Año: 2000 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Lengua / Médula Ósea / Catarata / Pigmentación / Displasia Ectodérmica / Hiperpigmentación / Disqueratosis Congénita / Leucoplasia / Conducto Nasolagrimal / Cuello Límite: Adolescente / Humanos / Masculino Idioma: Inglés Revista: Annals of Dermatology Año: 2000 Tipo del documento: Artículo