Management of Scalp Nodules and Systemic Manifestations in Hyaline Fibromatosis Syndrome

Hyaline fibromatosis syndrome (HFS) is an extremely rare autosomal recessive disorder caused by mutations in the ANTXR2 gene, leading to the accumulation of hyaline material in various tissues. It encompasses two clinical phenotypes previously thought to be distinct: Juvenile Hyaline Fibromatosis (JHF) and Infantile Systemic Hyalinosis (ISH). We report the case of a 6.5-year-old male, born to consanguineous parents, presenting with a characteristic triad: multiple subcutaneous nodules (primarily on the scalp), pearly skin papules, and severe gingival hyperplasia. The patient also exhibited debilitating joint flexion contractures (resulting in a "frog-leg" posture) and a history of chronic diarrhea and recurrent respiratory infections. Imaging revealed cranial osteolytic lesions, and histopathological analysis confirmed the diagnosis of hyaline fibromatosis. The patient underwent successful surgical excision of the scalp masses followed by skin grafting. This case illustrates the phenotypic overlap between JHF and ISH, supporting the current classification of these entities as a single disease spectrum. While cognitive functions are preserved, physical prognosis depends on the severity of visceral involvement and the management of functional impairments. Early clinical recognition is essential for appropriate multidisciplinary management and genetic counseling. HFS should be considered in the differential diagnosis of pediatric patients presenting with typical cutaneous lesions and joint contractures.