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Publication
Disqueratose congénita, uma doença enigmática
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Advisor(s)
Abstract(s)
RESUMO
A disqueratose congénita é uma
patologia rara, de hereditariedade heterogénea
que envolve órgãos distintos de
forma progressiva e não simultânea dificultando muitas vezes o seu diagnóstico
tal como ocorreu no caso apresentado.
Jovem do sexo feminino, acompanhada
em Consulta desde os cinco anos
por mau desenvolvimento estaturo-ponderal.
A hipótese de disqueratose congénita
foi colocada aos nove anos face
ao aparecimento de leucoplaquia na cavidade
oral, macula hiperpigmentada no
dorso, pigmentação cutânea reticulada
no pescoço e distrofia ungueal. Posteriormente
surgiu disfagia por estenose
esofágica do terço superior. A hipoplasia
medular manifestou-se aos 18 anos
confirmando o diagnóstico. A pesquisa
de mutações nos genes DKC1 e hTR resultou
negativa. Actualmente mantém um
quadro hematológico estável, sem recurso
a qualquer terapêutica. Necessita de
dilatações esofágicas periódicas.
ABSTRACT Dyskeratosis congenita is a rare disorder characterized by a genetic heterogeneity and a progressive and not simultaneous organ involvement; this can make the diagnosis difficult as it happened in the presented case. A young girl was referred due to deficient growth since the age of five. At age nine she developed oral leukoplakia, reticulate skin pigmentation and nail dystrophy and the hypothesis of a dyskeratosis congenita was proposed. Latter dysphagia related to a high oesophagic stenosis also appeared. When she was eighteen, the gradual appearance of bone-marrow hypoplasia confirmed the diagnosis. Screening for DKC1 and hTR gene mutations was negative. Nowadays her haematological profile is stable, needing no treatment. However, periodic oesophagic dilatations are necessary to control the dysphagia.
ABSTRACT Dyskeratosis congenita is a rare disorder characterized by a genetic heterogeneity and a progressive and not simultaneous organ involvement; this can make the diagnosis difficult as it happened in the presented case. A young girl was referred due to deficient growth since the age of five. At age nine she developed oral leukoplakia, reticulate skin pigmentation and nail dystrophy and the hypothesis of a dyskeratosis congenita was proposed. Latter dysphagia related to a high oesophagic stenosis also appeared. When she was eighteen, the gradual appearance of bone-marrow hypoplasia confirmed the diagnosis. Screening for DKC1 and hTR gene mutations was negative. Nowadays her haematological profile is stable, needing no treatment. However, periodic oesophagic dilatations are necessary to control the dysphagia.
Description
Keywords
disqueratose congénita telómero leucoplaquia dyskeratosis congenita telomere leukoplaquia
Citation
Nascer e Crescer 2008; 17(2): 80-82