Gingival Hyperplasia Associated With Juvenile Hyaline Fibromatosis: A Case Report and Review of the Literature

"Molluscum fibrosum," a variant of the neurofibromatosis disorders, was first described by Murray in 1873.(1) However, in 1973 it was Kitano et al(2) who renamed the disease "juvenile hyaline fibromatosis" (JHF). There have been approximately 70 cases of JHF reported in the literature to date.(3) JHF is a rare autosomal dominant systemic disease of the connective tissue, typically presenting in childhood.(4,5) In 2002, Rahman et al(6) performed a genetic analysis of 2 families with JHF and linked JHF to a mutation on chromosome 4q21. The exact underlying pathogenesis of JHF is yet to be identified, but some investigators have proposed it results from an abnormality in collagen(7-13) or the result of defective glycosaminoglycan formation.(2,14,15) Many investigators have proposed that a similar condition, infantile systemic hyalinosis (ISH) and JHF are 2 variants of the same disease.(16) In addition to ISH, other differential diagnoses may include neurofibromatosis, Turban tumor, and Winchester syndrome.(17) JHF is characterized by an abnormal growth of hyalinized fibrous tissue and is defined by its clinical manifestations, which include subcutaneous form nodules or pearly skin papules, joint contractures, osteolytic lesions, and gingival hypertrophy.(18,19) The histopathologic findings of JHF and ISH include an abundant deposition of homogenous and amorphous hyaline material in the skin.(20) Treatment of subcutaneous nodules consists of surgical excision, which is preferably early. 21,22 Physiotherapy and therapy with cortisone and adrenocorticotrophin have been found to alleviate the pain and problems associated with joint contractures.(17) The gingival overgrowth may compromise oral hygiene, ability to feed, and esthetics. Such patients are more prone to dental infection and caries.(23) Treatment of oral lesions may include partial or radical gingivectomy and repeated as appropriate. The extraction of mobile and carious teeth is advised.(24-27) We report JHF in a Middle Eastern female patient who was under the care of the oral and maxillofacial surgery and dermatology departments at Great Ormond Street Hospital (London, UK) from 2 to 17 years of age. The clinical manifestations and management are described.