Oswal Rupal M, Prasad Shruthi S, Manohar Naveen, Pise Gajanan A, Rao Kiran
Dermatology, Belagavi Institute of Medical Sciences, Belagavi, IND.
Dermatology, Kasturba Medical College, Manipal, Manipal, IND.
Cureus. 2022 Aug 12;14(8):e27947. doi: 10.7759/cureus.27947. eCollection 2022 Aug.
Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISF) are rare progressive, fatal autosomal recessive fibromatosis disorders that are characterized by the deposition of hyaline in various tissues. Mutations in capillary morphogenesis gene 2 are responsible for both of these conditions. These disorders usually present with fleshy, papular lesions, joint contractures, gingival hyperplasia, and persistent diarrhoea. An 18-month-old boy presented with multiple scalp abscesses, facial nodules, gingival hypertrophy, hypertrophic verrucous plaques and joint contractures with unique dermoscopic features and a history of recurrent diarrhoea and infections. Histopathological examination following skin biopsy revealed deposition of hyaline in the stroma and subcutaneous tissues. JHF is a differential diagnosis in children who present with multiple scalp nodules. Here, we report the case of overlapping features of JHF and ISH. The evolution of this case provides a special opportunity to further understand the pathogenesis and clinical characterization of hyaline fibromatosis syndrome.
青少年透明纤维瘤病（JHF）和婴儿系统性透明变性（ISF）是罕见的进行性、致命的常染色体隐性纤维瘤病，其特征是在各种组织中沉积透明质。毛细血管形态发生基因2的突变是导致这两种病症的原因。这些病症通常表现为肉质丘疹性病变、关节挛缩、牙龈增生和持续性腹泻。一名18个月大的男孩出现多处头皮脓肿、面部结节、牙龈肥大、疣状肥厚性斑块和关节挛缩，具有独特的皮肤镜特征，并有反复腹泻和感染史。皮肤活检后的组织病理学检查显示透明质在基质和皮下组织中沉积。JHF是出现多处头皮结节儿童的鉴别诊断疾病。在此，我们报告一例具有JHF和ISH重叠特征的病例。该病例的进展为进一步了解透明纤维瘤病综合征的发病机制和临床特征提供了一个特殊机会。
