Haddad J, Dandach A, Gebran S, Rhayel L, Aftimos G
Département de pédiatrie, hôpital Saint-Georges, université Libanaise, Beyrouth.
Arch Pediatr. 1997 Dec;4(12):1200-3. doi: 10.1016/s0929-693x(97)82609-7.
Juvenile hyaline fibromatosis (JHF) is rare disease of autosomal recessive inheritance.
A 14-year old boy, born to consanguineous parents was admitted because he suffered from multiple tumors since the age of 5 years. These tumors were mobile, painful varying in size, located mainly on the head, the back, and extremities; they were associated with gingival overgrowth. Bone X-rays showed osteolytic lesions. The cognitive development was normal. Biopsy of tumors showed cords of spindle-shaped cells embedded in homogeneous eosinophilic matrix. The child was progressively disabled due to articular changes. Two of his brothers presented the same features.
This new case of JHF confirms the severity of prognosis of such a fibromatosis presently considered as a hereditary disorder of collagen metabolism.
青少年透明纤维瘤病（JHF）是一种常染色体隐性遗传的罕见疾病。
一名14岁男孩，其父母为近亲结婚，因自5岁起就患有多个肿瘤而入院。这些肿瘤可活动，有疼痛感，大小不一，主要位于头部、背部和四肢；它们还伴有牙龈增生。骨骼X线显示溶骨性病变。认知发育正常。肿瘤活检显示梭形细胞条索嵌入均匀的嗜酸性基质中。由于关节病变，该患儿逐渐残疾。他的两个兄弟也有相同症状。
这例新的青少年透明纤维瘤病病例证实了这种纤维瘤病目前被认为是一种胶原代谢遗传性疾病的严重预后情况。
