Mantri Meeta Dipak, Pradeep Mahajan M, Kalpesh Patil O, Pranavsinh Raj J
Department of Dermatology, YCM Hospital, Pune, Maharashtra, India.
Indian J Dermatol. 2016 Sep-Oct;61(5):580. doi: 10.4103/0019-5154.190129.
Hyaline fibromatosis syndrome (HFS) is rare autosomal recessive disease characterized by the deposition of amorphous hyaline material in skin and visceral organs. It represents a disease spectrum with infantile systemic hyalinosis (ISH) being the severe form and juvenile hyaline fibromatosis (JHF) being the mild form. Dermatologic manifestations include thickened skin, perianal nodules, and facial papules, gingival hyperplasia, large subcutaneous tumors on the scalp, hyperpigmented plaques over the metacarpophalangeal joints and malleoli, and joint contractures. ISH shows a severe visceral involvement, recurrent infections, and early death. We report a case of 2.5-year-old female patient who presented with HFS who had overlapping features of both ISH and JHF. To the best of our knowledge, very few cases of HFS have been reported in Indian literature till date.
透明纤维瘤病综合征（HFS）是一种罕见的常染色体隐性疾病，其特征是无定形透明物质沉积于皮肤和内脏器官。它代表了一种疾病谱，其中婴儿全身性透明变性（ISH）是严重形式，青少年透明纤维瘤病（JHF）是轻度形式。皮肤表现包括皮肤增厚、肛周结节、面部丘疹、牙龈增生、头皮上的大型皮下肿瘤、掌指关节和内踝处色素沉着斑以及关节挛缩。ISH表现为严重的内脏受累、反复感染和早期死亡。我们报告了一例2.5岁女性患者，她患有具有ISH和JHF重叠特征的HFS。据我们所知，迄今为止，印度文献中报道的HFS病例非常少。
