Indian Journal of Dermatology
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E-IJD CASE REPORT
Year : 2016  |  Volume : 61  |  Issue : 5  |  Page : 580

Hyaline fibromatosis syndrome: A rare inherited disorder


Department of Dermatology, YCM Hospital, Pune, Maharashtra, India

Correspondence Address:
Meeta Dipak Mantri
Department of Dermatology, YCM Hospital, Pimpri, Pune - 411 018, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0019-5154.190129

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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.


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