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Hyaline Fibromatosis Syndrome: A Rare Inherited Disorder.

ABSTRACT: Hyaline fibromatosis syndrome (HFS) is rare autosomal recessive disease characterized by the deposition of amorphous hyaline material in skin and visceral organs. It represents a disease spectrum with infantile systemic hyalinosis (ISH) being the severe form and juvenile hyaline fibromatosis (JHF) being the mild form. Dermatologic manifestations include thickened skin, perianal nodules, and facial papules, gingival hyperplasia, large subcutaneous tumors on the scalp, hyperpigmented plaques over the metacarpophalangeal joints and malleoli, and joint contractures. ISH shows a severe visceral involvement, recurrent infections, and early death. We report a case of 2.5-year-old female patient who presented with HFS who had overlapping features of both ISH and JHF. To the best of our knowledge, very few cases of HFS have been reported in Indian literature till date.

SUBMITTER: Mantri MD

PROVIDER: S-EPMC5029258 | biostudies-literature | 2016 Sep-Oct

REPOSITORIES: biostudies-literature

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Hyaline Fibromatosis Syndrome: A Rare Inherited Disorder.

Mantri Meeta Dipak MD Pradeep Mahajan M MM Kalpesh Patil O PO Pranavsinh Raj J RJ

Indian journal of dermatology 20160901 5

Hyaline fibromatosis syndrome (HFS) is rare autosomal recessive disease characterized by the deposition of amorphous hyaline material in skin and visceral organs. It represents a disease spectrum with infantile systemic hyalinosis (ISH) being the severe form and juvenile hyaline fibromatosis (JHF) being the mild form. Dermatologic manifestations include thickened skin, perianal nodules, and facial papules, gingival hyperplasia, large subcutaneous tumors on the scalp, hyperpigmented plaques over ...[more]

PMID: 27688461

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