Lumps and bumps in a young child: Hyaline fibromatosis syndrome

Abstract

Hyaline fibromatosis syndrome (HFS) is a rare deposition disorder, wherein the skin and internal organs have unusual amounts of amorphous hyaline material. HFS can present as a milder form called Juvenile Hyaline Fibromatosis or severe Infantile Systemic Hyalinosis (ISH). Skin changes common to both the entities are skin thickening, perianal nodules, facial papules, gingival hyperplasia, hyperpigmented plaques over flexural joints and massive subcutaneous scalp tumours. Conspicuous involvement of the joints in the form of joint contractures affects patient morbidity. Furthermore, ISH involves the gastrointestinal tract characterised by protein-losing enteropathy and malabsorption. This contributes to the high mortality seen in ISH. We describe a 2-year-old male patient with grade 2 HFS who succumbed to a lower respiratory tract infection, a manifestation not typically observed in moderate HFS cases.