[Juvenile hyaline fibromatosis]. / Fibromatose hyaline juvénile.
Ann Dermatol Venereol
; 137(5): 364-8, 2010 May.
Article
en Fr
| MEDLINE
| ID: mdl-20470917
ABSTRACT
BACKGROUND:
Juvenile hyaline fibromatosis and infantile systemic hyalinosis are two rare autosomal recessive diseases arising from mutation in the capillary morphogenesis factor-2 gene. They are characterized by accumulation of hyaline material, in the skin in the first instance and in other organs in the second. We describe a case of juvenile hyaline fibromatosis. CASE REPORT A 2-year-old girl presented gingival hyperplasia, skin papules, subcutaneous nodules and joints and bones lesion. A diagnosis of juvenile hyaline fibromatosis was suggested and this was confirmed by histopathology and genetic analyses. The patient presented frequent episodes of diarrhoea, which is evocative of infantile systemic hyalinosis.DISCUSSION:
This case clearly illustrates the wide phenotypic range of juvenile hyaline fibromatosis. Diagnosis must be made as soon as possible to avoid cosmetic and functional handicap.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Enfermedades de la Piel
/
Fibromatosis Gingival
/
Artropatías
/
Proteínas de la Membrana
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
Límite:
Child, preschool
/
Female
/
Humans
País/Región como asunto:
Africa
Idioma:
Fr
Revista:
Ann Dermatol Venereol
Año:
2010
Tipo del documento:
Article
País de afiliación:
Francia