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1.
Pediatr Dermatol ; 17(2): 115-7, 2000.
Artigo em Inglês | MEDLINE | ID: mdl-10792799

RESUMO

Keratitis-ichthyosis-deafness (KID) syndrome is a congenital ectodermal disorder causing erythrokeratoderma, vascularizing keratitis, and neurosensory deafness. Ichthyosis hystrix is a rare cutaneous disease characterized by well-demarcated, spiky, verrucous, linear plaques that is believed to be a clinical and pathologic chimera of two autosomal dominant diseases: epidermal nevus and epidermolytic hyperkeratosis. We present a patient with the classic triad of KID syndrome with clinical and histologic features of ichthyosis hystrix. This case demonstrates that KID syndrome comprises a spectrum of ectodermal disorders which may include diseases such as hystrix ichthyosis and deafness (HID) syndrome.


Assuntos
Surdez , Ictiose Vulgar/diagnóstico , Ceratite/diagnóstico , Argentina , Biópsia por Agulha , Criança , Humanos , Ictiose Vulgar/patologia , Masculino , Prognóstico , Síndrome
2.
J Pediatr ; 136(3): 390-3, 2000 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-10700698

RESUMO

X-linked dyskeratosis congenita (DKC) is characterized by mucosal leukoplakia and ulcerations, skin abnormalities, nail dystrophy, and pancytopenia. Hoyeraal-Hreidarsson syndrome (HHS) includes intrauterine growth retardation, microcephaly, mental retardation, cerebellar malformation, and pancytopenia. A patient with striking features of both HHS and DKC has a de novo mutation in the DKC1 gene, known to be responsible for DKC. HHS may be a severe form of DKC, in which affected individuals die before characteristic mucocutaneous features develop.


Assuntos
Cerebelo/anormalidades , Disceratose Congênita/complicações , Retardo do Crescimento Fetal/complicações , Deficiência Intelectual/complicações , Microcefalia/complicações , Pancitopenia/complicações , Proteínas de Ciclo Celular/genética , Pré-Escolar , Disceratose Congênita/genética , Humanos , Masculino , Mutação , Proteínas Nucleares/genética , Síndrome
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