JUVENILE HYALINE FIBROMATOSIS

By Gary M. White, MD


Juvenile Hyaline Fibromatosis (JHF) is an autosomal recessive disease characterized by extensive deposits of extracellular hyaline material containing collagen and glycosaminoglycans in the skin, gingiva and all other organs, except the brain. Multiple subcutaneous skin nodules and masses, gingival hypertrophy and joint contractures are present and may be associated with systemic symptoms.

Clinical

The papules and nodules of the skin may be pearly and translucent or larger and white. Multiple subcutaneous tumors may occur. Papillomas may be seen in the anal and perigenital area.

Treatment

Referral to a specialist is in order. No metabolic treatment is yet available. Surgical excision of individual lesions may be considered.

References

12-year-old girl. Indian J Dermatol 2011;56:731-3

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