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.
- Mutations in the capillary morphogenesis protein 2 gene cause both infantile and juvenile systemic fibromatosis and Infantile Hyaline Fibromatosis
- An amorphous substance accumulates in the skin and bone and even viscera.
- Papular and nodular skin lesions, gum hypertrophy, muscle weakness, and flexion contractures of the large joints.
- The onset is usually in young patients but onset in a 45-year-old patient has been reported [Dermatology 1999;198;83].
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.
Referral to a specialist is in order. No metabolic treatment is yet available. Surgical excision of individual lesions may be considered.
12-year-old girl. Indian J Dermatol 2011;56:731-3
Homepage | FAQs | Use of Images | Contact Dr. White
It is not the intention of RegionalDerm.com to provide specific medical advice, diagnosis or treatment. RegionalDerm.com only intends to provide users with information regarding various medical conditions for educational purposes and will not provide specific medical advice. Information on RegionalDerm.com is not intended as a substitute for seeking medical treatment and you should always seek the advice of a qualified healthcare provider for diagnosis and for answers to your individual questions. Information contained on RegionalDerm.com should never cause you to disregard professional medical advice or delay seeking treatment. If you live in the United States and believe you are having a medical emergency call 911 immediately.