Xia Liang, Hu Yuhua, Zhang Chunye, Wu Dandan, Chen Yang
Department of Oral and Cranio-maxillofacial Surgery, The Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, National Center of Stomatology, National Clinical Research Center for Oral Diseases, Shanghai Key Laboratory of Stomatology, Chinese Academy of Medical Sciences Oral and Maxillofacial Regenerative Medicine Innovation Unit, Shanghai, China.
Department of Oral Pathology, The Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, National Center of Stomatology, National Clinical Research Center for Oral Diseases, Shanghai Key Laboratory of Stomatology, Chinese Academy of Medical Sciences Oral and Maxillofacial Regenerative Medicine Innovation Unit, Shanghai, China.
Transl Pediatr. 2021 Nov;10(11):3124-3129. doi: 10.21037/tp-21-169.
Juvenile hyaline fibromatosis (JHF) is a rare recessive autosomal hereditary disorder characterized by papulonodular skin, gingival hyperplasia, flexural joint contractures, and osteolytic bone lesions. Worldwide, less than 70 cases have been reported. JHF is thought to be a disorder of collagen metabolism which is caused by genomic sequence variations in the gene and is characterized by homogenous amorphous hyaline material and fibrous tissue. JHF is most commonly diagnosed in infants and in children less than 5 years. We report a 28-month-old child of a consanguineous marriage who presented with severe gingival hyperplasia, multiple facial nodules, posterior occipital tumors, joint contractures, and osteolytic bone lesions. His limbs and fingers cannot be straightened, with a posture of frog pose. The occlusal and incisal surfaces of the teeth were completely covered with the gingival overgrowth. The gingival hypertrophy and facial swellings were surgically removed, with pathological features of monomorphic spindled cell proliferation surrounded by an abundant amorphous hyaline matrix. The genome sequencing was performed that a homozygous nucleotide mutation of gene was found. We outline this particular patient's presentation, followed by a discussion highlighting the characteristics that change with the condition and the treatments of this disease. The treatment of JHF is generally symptomatic treatment and requires multidisciplinary care. Physical rehabilitation has been advocated for a lifetime.
青少年透明纤维瘤病（JHF）是一种罕见的常染色体隐性遗传性疾病，其特征为丘疹结节性皮肤病变、牙龈增生、关节挛缩和溶骨性骨病变。在全球范围内，报告的病例不到70例。JHF被认为是一种胶原代谢紊乱疾病，由该基因的基因组序列变异引起，其特征是均质无定形透明物质和纤维组织。JHF最常见于婴儿和5岁以下儿童。我们报告了一名28个月大的近亲结婚的儿童，其表现为严重的牙龈增生、多个面部结节、枕后肿瘤、关节挛缩和溶骨性骨病变。他的四肢和手指无法伸直，呈蛙状姿势。牙齿的咬合面和切缘完全被牙龈过度生长覆盖。手术切除了牙龈肥大和面部肿胀，病理特征为单形性梭形细胞增殖，周围有丰富的无定形透明基质。进行了基因组测序，发现该基因存在纯合核苷酸突变。我们概述了该特定患者的表现，随后进行了讨论，重点强调了病情变化的特征以及该疾病的治疗方法。JHF的治疗通常是对症治疗，需要多学科护理。提倡终身进行物理康复治疗。
