doi: 10.1111/j.1346-8138.2006.00063.x Journal of Dermatology 2006; 33: 260–264 260 © 2006 Japanese Dermatological Association Blackwell Publishing Ltd CASE REPORT A case of juvenile hyaline fibromatosis Savas YAYLI, 1 Sibel UNCU, 1 Köksal ALPAY, 1 Kadriye YILDIZ, 2 Gülseren ÇIMSIT, 1 Sevgi BAHADIR 1 Departments of 1 Dermatology and 2 Pathology, Medicine Faculty of Karadeniz Technical University,Trabzon,Turkey ABSTRACT Juvenile hyaline fibromatosis (JHF) is a rare, autosomally-recessive disease characterized by papulonodular skin lesions, soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions. Its onset is in infancy or early childhood. The most commonly affected sites are the nose, chin, ears, scalp, back and knees. The accumulation of an amorphous, hyaline material is typical in the skin and the other organs. Herein, we report a 14-month-old boy who presented with confluent pink papules on the paranasal folds and the chin, and nodular lesions on the periauricular and perianal regions. He had gingival hypertrophy and contractures of the shoulders, knees and elbows. He also had third-degree consanguineous parents. Histopathological studies confirmed the diagnosis of JHF with the presence of increased numbers of fibroblasts embedded in a hyalinized connective tissue stroma. Key word: juvenile hyaline fibromatosis. INTRODUCTION Juvenile hyaline fibromatosis (JHF) is a rare, autosomally recessive disease with an onset in infancy or early childhood. It is characterized by papulonodular skin lesions, consisting of multiple nodules, tumors and pink, pearly papules mainly located on the head, back and extremities. Joint contractures, gingival hypertrophy, osteolytic bone lesions and stunted growth may accompany the skin lesions. 1 The histological findings of the lesions are characterized by the varying degrees of fibroblasts and amorphous hyaline ground sub- stance in the extracellular spaces of the dermis and soft tissues. 2 It is thought that impaired collagen synthesis causes the disease. 3 CASE REPORT A 14-month-old boy presented with pink confluent papules and nodules on the paranasal folds, the chin and periauricular and perianal regions. The patient had a birthweight of 3.7 kg after a normal pregnancy of third-degree consanguineous parents. He was well in the first 2 months after birth. Following this period, his parents noticed difficulties in moving his limbs. A progressive, papulonodular eruption developed concurrently on his face, ears and perianal regions. On physical examination, he had pink confluent papules on the paranasal folds, chin, gluteal sulcus and gluteofemoral regions. There were nodular lesions on his bilateral periauricular and perianal regions. He also had severe gingival hypertrophy (Figs 1–3). His hearing and eyesight were normal. Except for mild microcytic anemia and hypopro- teinemia, all the results of hematological and bio- chemical tests were normal. Skeletal radiography showed the joint contractures on his shoulders, knees and elbows. There were no osteolytic bone lesions. Histopathological examination of a gingival biopsy revealed focal epithelial atrophy, a prolifera- tion of spindle fibroblasts embedded in a hyalinized Correspondence: Dr Savas Yaylı, Karadeniz Teknik Üniversitesi Tıp Fakültesi, Dermatoloji ABD, 61080 Trabzon, Turkey. Email: savas_an@yahoo.com Received 7 April 2005; accepted 18 October 2005.