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Anais Brasileiros de Dermatologia
Print version ISSN 0365-0596
BRANDAO, Flávia Vieira; SILVA, Cláudia Márcia Resende; GONTIJO, Bernardo and GUEDES, Antônio Carlos Martins. Case for diagnosis. An. Bras. Dermatol. [online]. 2009, vol.84, n.6, pp.677-679. ISSN 0365-0596. http://dx.doi.org/10.1590/S0365-05962009000600017.
Juvenile hyaline fibromatosis and infantile systemic hyalinosis are rare autossomal recessive disorders with onset in infancy or early childhood. Histological examination shows deposit of hyaline material in the dermis and subcutaneous tissue. Clinical features include papulonodular skin lesions, gingival hypertrophy, flexion contractures of joints, osteolytic bone lesions and stunted growth. Mutations in the same gene were detected in both conditions, suggesting that they may be variants of the same disorder.
Keywords : Fibroma; Gingival hypertrophy; Mutation; Skin; Skin [lesions].