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Research Article | Volume 19 Issue 2 (April-June, 2026) | Pages 91 - 98
A Rare Case Report of Hyaline Fibromatosis Syndrome with an Overlapping Phenotype
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1
PG resident , Department of Dermatology Pt. Jawahar Lal Nehru Memorial Medical College Raipur, Chhatisgarh, INDIA
2
MD DermatologyDepartment of Dermatology Pt. Jawahar Lal Nehru Memorial Medical College Raipur, Chhatisgarh, INDIA
Under a Creative Commons license
Open Access
Received
April 26, 2026
Revised
May 1, 2026
Accepted
May 10, 2026
Published
May 15, 2026
Abstract

Hyaline fibromatosis syndrome (HFS) is a rare, autosomal recessive condition due to pathogenic variants in the ANTXR2 gene, associated with the deposition of amorphous hyaline material in the skin, connective tissues, soft tissues, and internal organs. There is a clinical spectrum between the severe infantile systemic hyalinosis (ISH) phenotype and the relatively milder juvenile hyaline fibromatosis (JHF) phenotype. Patients can have generalized skin thickening and stiffness, hyperpigmented papules on extensor surfaces and pressure-bearing areas, fleshy perianal nodules, papules on the face, gingival hypertrophy, subcutaneous swellings of the scalp, and progressive joint contractures resulting in marked musculoskeletal disability. Patients with the ISH phenotype often have severe systemic disease, such as chronic diarrhea, frequent infections, and visceral involvement, with poor early childhood survival. The prognosis is poor and there is no specific treatment. We report a case of a 2-year-old female child with HFS who has overlapping clinical features of both ISH and JHF phenotypes. This case illustrates the variable clinical presentation of HFS and emphasizes the need for early diagnosis and multi-disciplinary management of this rare condition, which is rarely reported in the Indian literature.

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