Extensive Mongolian Spots Associated with Hunter Syndrome / 대한피부과학회지
Korean Journal of Dermatology
;
: 820-824, 2002.
Artigo
em Coreano
| WPRIM
| ID: wpr-25148
ABSTRACT
We report a case of Hunter syndrome with extensive Mongolian spots. A 4-year-old male baby presented with asymptomatic, firm, raised, ivory-colored papules and nodules which coalesced to form ridges in a reticular pattern (pebbling of the skin) and were arranged bilaterally and symmetrically over the scapulae, and lateral aspects of the thighs. Large Mongolian spots were present over the back. He has low intelligence, short stature, a protuberant abdomen with hepatosplenomegaly, and broad hands with clawlike contractures of the distal interphalangeal joints. The result of qualitative analysis of mucopolysaccharride was positive for the dermatan sulfate and heparan sulfate in the urine. Massive mucinous materials which stained positively with alcian blue were observed from collagen fibers throughout the dermis of skin biopsy specimen. Metachromatic granules within fibroblasts stained with toluidine blue were also seen. This case is reported for its rarity and the typical skin lesions, the recognition of which may be helpful in diagnosis and genetic counselling.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Escápula
/
Pele
/
Coxa da Perna
/
Cloreto de Tolônio
/
Biópsia
/
Colágeno
/
Mucopolissacaridose II
/
Mucopolissacaridoses
/
Contratura
/
Derme
Tipo de estudo:
Estudo diagnóstico
/
Pesquisa qualitativa
Limite:
Criança, pré-escolar
/
Humanos
/
Masculino
Idioma:
Coreano
Revista:
Korean Journal of Dermatology
Ano de publicação:
2002
Tipo de documento:
Artigo
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