Infantile systemic hyalinosis: Case report and review of the literature.
J Am Acad Dermatol
; 58(2): 303-7, 2008 Feb.
Article
en En
| MEDLINE
| ID: mdl-18222328
ABSTRACT
Infantile systemic hyalinosis (ISH) is a rare, progressive autosomal recessive disease, which is usually fatal by the age of 2 years. Clinical onset typically occurs within the first few weeks of life. The disease is characterized by joint contractures, osteopenia, failure to thrive, gingival hypertrophy, diarrhea, protein-losing enteropathy, and frequent infections. Dermatologic manifestations include thickened skin, hyperpigmentation, perianal nodules, and facial papules. Histopathology shows hyaline deposits in the dermis and visceral organs. We describe a patient with ISH confirmed by clinical and histopathologic findings, as well as DNA sequence analysis, which revealed a novel homozygous T118K mutation in the CMG2 gene.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Enfermedades de la Piel
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Contractura
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Artropatías
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Enfermedades Musculares
Límite:
Female
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Humans
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Infant
Idioma:
En
Revista:
J Am Acad Dermatol
Año:
2008
Tipo del documento:
Article
País de afiliación:
Estados Unidos