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CASE REPORT
Year : 2019  |  Volume : 20  |  Issue : 1  |  Page : 64-67

Hyaline fibromatoses syndrome: A rare entity


Department of Pediatric Dermatology, Bai Jerbai Wadia Hospital for Children, Mumbai, Maharashtra, India

Correspondence Address:
Dr. Resham Vasani
C-1, 22, Karmakshetra, Near Shanmukhananda Hall, Sion, Mumbai - 400 037, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpd.IJPD_31_18

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Hyaline fibromatoses syndrome is a rare autosomal recessive disorder with very few cases reported from India till date. It is characterized by the deposition of amorphous hyaline material in the skin, bones, and viscera. It represents a disease spectrum with infantile systemic hyalinosis as the most severe form and juvenile hyaline fibromatoses (JHF) being the mild form. These conditions characteristically present with overlapping clinical features such as nodules and/or pearly papules, gingival hyperplasia, flexion contractures of the joints, and osteolytic bone defects. Identification of this condition by the treating dermatologist is important to facilitate an early diagnosis and a multidisciplinary follow-up. We report one such case of this uncommon condition– JHF.


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