Two Siblings with Juvenile Hyaline Fibromatosis: Case Reports and Review of the Literature

Abstract

In this paper, we describe two siblings with Juvenile Hyaline Fibromatosis (JHF) who were diagnosed at the age of 34 and 29 years respectively. JHF is a very congenital disease, mainly diagnosed in the first few years of life, with less than 40 published cases in literature. All the main clinical features of this syndrome, which may be summarised as multiple subcutaneous tumours, marked gingival hypertrophy, flexion contractures and osteolytic lesions were present in both of these cases. Clinical, radiological and histological differential diagnosis of JHF were made. Recent information about histopathology, treatment and prognosis of JHF was also reviewed.

Infantile systemic hyalinosis: Report of two severe cases from Saudi Arabia and review of the literature

“…Marked gingival hyperplasia, results in difficulties in suction, mastication and leads to malnutrition, and has been reported earlier as in our cases (19).…”

Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis): whole-body MR findings in two siblings with different subcutaneous nodules distribution

“…Osteolytic lesions commonly occur in the long bones, skull and distal phalanges, associated or not with soft tissue swelling [18][19][20]. Diffuse demineralization was reported in long bones and reabsorption in the medial aspect of the proximal tibiae seems to be a distinctive feature of the disorder [21].…”

“…X-ray exam of the hands of our second patient revealed multiple areas of erosion involving the distal phalanges associated with tissue swelling as typical signs of the disease. Only a few cross sectional imaging features have been reported in literature due to the extreme rarity of the disease [18,20,21].…”

Anesthetic Management in Juvenile Hyaline Fibromatosis: Case Report

“…(4) Özellikle 2 ile 5 yaş arasında dikkat çekici bir hale gelen, her iki cinsiyette eşit dağılım gösteren bu hastalık da, gingival ve oral hiperplazi, ağ-rılı fleksiyon kontraktürleri, başlıca baş ve boyunda olmak üzere tüm vücut bölgele-rinde yavaş büyüyen geniş deri nodülleri ve osteolitik lezyonlar görülür. (2)(3)(4)(5)(6) Deri nodülleri genellikle perinazal ve postaurikular bölgede, ağrısız, pembe ve inci dizili görünümündedir. (7,8) Büyüme geriliği gö-rülmekte fakat mental gelişim yaşa göre uygunluk göstermektedir.…”

“…TARTIŞMA JHF, özellikle artan yaşla parelel olarak boyun hareketlerinde kısıtlılık, temporomandibular eklemde kontraktür, dil ve trakeada hyalin birikimi, psödo hurler yüz deformitesi gibi ağız açıklığını sınırlayan nedenlerle hava yolu yönetiminin zor olabileceği belirtilen bir hastalıktır. (1)(2)(3)(4)(5)(6)(7)(8)(9) JHF'de anestezi yönetimi ile ilgili az sayıda olgu sunumu mevcuttur. Yapılan literatür taramasının sonuçları Tablo I'de özetlenmiştir.…”