95 Case Report: A Rare Case of Juvenile Hyaline Fibromatosis Presenting with Bilateral Acro-OsteolysisJ Wen, C Heras-Palou
We report a rare case of juvenile hyaline fibromatosis (JHF) leading to acro-osteolysis of bilateral hands in a 54-year-old male patient.
JHF is an autosomal recessive condition resulting from a mutation of the ANTXR2/ CMG2 gene. It results in an accumulation of hyaline amorphous deposits in the skin and other organs. Other cardinal manifestations include gingival hyperplasia, flexion contracture of large joints and lytic lesions of the long bones.
This right-handed window cleaner was referred to a specialist hand unit due to the debilitating accumulation of nodular skin lesions on his bilateral hands. X-ray demonstrated apparent osteolysis to multiple distal phalanges of his bilateral hands.
The patient was experiencing difficulties with gripping, leading to barriers to completing his activities of daily living and performing competently within his occupation.
Currently, there is no cure for this condition. Our patient underwent a total of nine operations over 10 years. Key indications for surgery included ulcerations of the hand lesions or optimising functional and aesthetic outcomes. Radiotherapy and chemotherapy were also attempted with limited beneficial results.
Our case has highlighted that JHF is an important differential to be considered by hand surgeons when presented with acro-osteolysis of the hand. This is a chronic disease that requires a multidisciplinary team approach to addressing both the social and physical manifestations of the disease. The likelihood of multiple operations is high. Therefore, careful stratification of surgical intervention coupled with shared decision-making with the patient throughout this process is fundamental.