Juvenile Hyaline Fibromatosis: Literature Review and a Case Treated With Surgical Excision and Corticosteroid

Abstract

Juvenile hyaline fibromatosis (JHF) is an extremely rare autosomal recessive disease with less than a hundred cases reported worldwide and is more prevalent in the middle east due to higher rates of interfamilial marriages. Manifestations can be debilitating, and patients typically present with decreased joint mobility, gingival hypertrophy, nodular skin lesions, papulonodular skin lesions and osteolytic bone disease. JHF is a relatively mild presentation of the hyaline fibromatosis syndrome (HFS) family of diseases, with Infantile hyaline fibromatosis (IHF) being the more lethal form. A mutation of the (CMG2) gene on chromosome 4q21 is hypothesized to result in the abnormal deposition of amorphous hyaline substance in different body tissues. There are few studies that evaluated the role of surgery, corticosteroid therapy and physiotherapy or a combination of these modalities in providing symptomatic relief. In our paper, we present a literature review and case presentation for 28-year-old women with JHF, treated with surgical excision and corticosteroid therapy. Early surgical treatment provided instantaneous and more sustainable results, while corticosteroids can be used as alternative modalities with temporary outcomes.

Pediatric cervical kyphosis in the MRI era (1984–2008) with long-term follow up: literature review

“…We encountered two patients with osteogenesis imperfecta [6,8] and one patient with juvenile hyaline fibromatosis [5]. The other syndromes encountered are Aarskog syndrome [1] and Weaver syndrome [24].…”

“Molluscum” Conditions in Dermatology

“…Clinically, it presents with multiple papulonodular lesions localized to head and neck, large subcutaneous nodules over scalp, decreased joint mobility, gingival hypertrophy and osteolytic lesions of skull, phalanges and long bones. [ 14 ] Histology of skin lesions shows a normal epidermis with extracellular and perivascular dermal deposition of homogeneous hyaline, PAS (Periodic Acid Schiff) positive and eosinophilic material. [ 15 ]…”

“…No treatment guidelines are available, though skin lesions can be treated by surgical excision and/or intralesional and systemic steroids, for localized and extensive involvement respectively, with some success. [ 14 ]…”

Test yourself-answer: multiple facial skin lesions associated with gingival hypertrophy in a pair of siblings

“…The disease is outlined by painful and progressive deposition of hyalinized fibrous material (collagen type VI) in the skin's extracellular matrix leading to the disease's clinical hallmark, the formation of subcutaneous nodules and enlarged gingiva [5]. The clinical features of JHF include joint disabilities (95.2%), gingival hypertrophy (92.9%), easy bleeding, and soft tissue nodules (85.7%) most frequently seen in the cervicofacial region and osteolytic bone lesions (42.1-68.4%) [6]. These findings are present in our siblings; they suffer from walking difficulties, recurrent joint pain, and joint deformation complicated by moderate to severe movement limitation mainly at the elbows and knees.…”

“…CMG2 encodes a membrane protein thought to be involved in the homeostasis of the extracellular matrix, the anthrax toxin receptor 2 (ANTXR2). To date, more than 15 different mutations are known for JHF [6].…”