Lindemann J, Richter D, Mohr W, Zenkel M
Klinik und Poliklinik für Hals-, Nasen-, Ohrenheilkunde, Universität Ulm.
Laryngorhinootologie. 2001 Jan;80(1):43-6. doi: 10.1055/s-2001-11029.
The juvenile hyaline fibromatosis (JHF) is a rare tumorous autosomal recessive disease of the connective tissue. The etiopathogenesis of the disease is unknown. Typical diagnostic criteria are multiple hyaline subcutaneous fibroma, filamentous tumors of the skin, gingival hypertrophy, muscle contractures of the extremities and multiple osteolytic bone destructions. Involvement of visceral organs is not described. Mental development and life expectancy are normal. Until today, no causal treatment of the JHF exists. Surgical excision of the dermal tumors is indicated for functional and aesthetic improvement. Complete excision should be executed in the early phase of their development. This has shown the best functional and aesthetic results, especially in facial areas. The progress of the disease is individual. Due to frequent recurrencies, repeated resections and revisions may be necessary. Interdisciplinal counseling and therapy, particularly physiotherapy, may partially improve the state of function.
青少年透明纤维瘤病（JHF）是一种罕见的结缔组织肿瘤性常染色体隐性疾病。该病的病因发病机制尚不清楚。典型的诊断标准包括多发性透明皮下纤维瘤、皮肤丝状肿瘤、牙龈肥大、四肢肌肉挛缩和多发性溶骨性骨破坏。未描述内脏器官受累情况。智力发育和预期寿命正常。迄今为止，尚无针对JHF的病因治疗方法。为改善功能和美观，建议手术切除皮肤肿瘤。应在其发展的早期进行完整切除。这已显示出最佳的功能和美观效果，尤其是在面部区域。疾病进展因人而异。由于频繁复发，可能需要重复切除和修复。多学科咨询和治疗，特别是物理治疗，可能会部分改善功能状态。
