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Abstract：
Tricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder characterized by distinctive craniofacial and skeletal abnormalities, while non-ossifying fibroma (NOF) is a common benign bone tumour in children and adolescents. To date, no case of TRPS coexisting with NOF has been reported. This report presents a 12-year-old girl who had the characteristic features of tricho-rhino-phalangeal syndrome and non-ossifying fibroma with a fibula fracture.
A 12-year-old girl was admitted to the Department of Endocrinology and Diabetes for evaluation of brachydactyly and a right fibula fracture. Clinical examination revealed sparse scalp hair, a characteristic bulbous pear-shaped nose, and brachydactyly with significant shortening of the fourth metatarsal. Neither intellectual disability nor multiple exostoses were observed. Radiography of both hands showed brachydactyly and cone-shaped epiphyses of the middle phalanges of the digits of both hands with deviation of the phalangeal axis. Genetic analysis of TRPS1 identified a heterozygous germline sequence variant (p.Ala932Thr) in exon 6 in the girl and her father. Approximately 1 month before being admitted to our department, the girl experienced a minor fall and suffered a fracture of the proximal fibula in the right lower limb. The pathological cytological diagnosis of the osteolytic lesion was NOF. Ten months following the surgery, the lesion on the proximal fibula of the girl disappeared.
In conclusion, the present study is the first to report a rare case of NOF with a pathologic fracture in the fibula of a girl with TRPS. The identification of a missense mutation, (p.Ala932Thr), in exon 6 of TRPS1 in this kindred further suggested that the patient had type I TRPS and indicated that mutations in this exon may be correlated with more pronounced features of the syndrome. Radiological techniques and genetic analysis played key roles in the definitive diagnosis.
A 12-year-old girl was admitted to the Department of Endocrinology and Diabetes for evaluation of brachydactyly and a right fibula fracture. Clinical examination revealed sparse scalp hair, a characteristic bulbous pear-shaped nose, and brachydactyly with significant shortening of the fourth metatarsal. Neither intellectual disability nor multiple exostoses were observed. Radiography of both hands showed brachydactyly and cone-shaped epiphyses of the middle phalanges of the digits of both hands with deviation of the phalangeal axis. Genetic analysis of TRPS1 identified a heterozygous germline sequence variant (p.Ala932Thr) in exon 6 in the girl and her father. Approximately 1 month before being admitted to our department, the girl experienced a minor fall and suffered a fracture of the proximal fibula in the right lower limb. The pathological cytological diagnosis of the osteolytic lesion was NOF. Ten months following the surgery, the lesion on the proximal fibula of the girl disappeared.
In conclusion, the present study is the first to report a rare case of NOF with a pathologic fracture in the fibula of a girl with TRPS. The identification of a missense mutation, (p.Ala932Thr), in exon 6 of TRPS1 in this kindred further suggested that the patient had type I TRPS and indicated that mutations in this exon may be correlated with more pronounced features of the syndrome. Radiological techniques and genetic analysis played key roles in the definitive diagnosis.
摘要：
三犀牛指骨综合征（TRPS）是一种罕见的常染色体显性遗传疾病，其特征是独特的颅面和骨骼异常，而非骨化性纤维瘤（NOF）是儿童和青少年常见的良性骨肿瘤。迄今为止,没有报告TRPS与NOF共存的病例。本报告介绍了一名12岁女孩，她具有三犀牛指骨综合征和非骨化性纤维瘤伴腓骨骨折的特征。
一名12岁的女孩被纳入内分泌和糖尿病科，用于评估短指和右腓骨骨折。临床检查显示头皮头发稀疏，特征性的球形梨形鼻子，短指，第四跖骨明显缩短。既未观察到智力残疾，也未观察到多发性骨外生。双手的射线照相术显示，双手手指的中指骨的短指和圆锥形的骨phy，并且指骨轴偏离。TRPS1的遗传分析鉴定了杂合种系序列变体（p。Ala932Thr）在女孩和她的父亲的第6外显子中。大约在被我们部门录取前一个月，女孩轻微跌倒，右下肢腓骨近端骨折。溶骨性病变的病理细胞学诊断为NOF。手术后10个月,女孩腓骨近端的病变消失了。
总之,本研究是首次报道一例罕见的NOF伴TRPS女孩腓骨病理性骨折的病例。错义突变的鉴定，(p.Ala932Thr),该家族中TRPS1外显子6中的突变进一步提示患者患有I型TRPS,并提示该外显子的突变可能与该综合征更明显的特征相关.放射学技术和遗传分析在明确诊断中起着关键作用。
一名12岁的女孩被纳入内分泌和糖尿病科，用于评估短指和右腓骨骨折。临床检查显示头皮头发稀疏，特征性的球形梨形鼻子，短指，第四跖骨明显缩短。既未观察到智力残疾，也未观察到多发性骨外生。双手的射线照相术显示，双手手指的中指骨的短指和圆锥形的骨phy，并且指骨轴偏离。TRPS1的遗传分析鉴定了杂合种系序列变体（p。Ala932Thr）在女孩和她的父亲的第6外显子中。大约在被我们部门录取前一个月，女孩轻微跌倒，右下肢腓骨近端骨折。溶骨性病变的病理细胞学诊断为NOF。手术后10个月,女孩腓骨近端的病变消失了。
总之,本研究是首次报道一例罕见的NOF伴TRPS女孩腓骨病理性骨折的病例。错义突变的鉴定，(p.Ala932Thr),该家族中TRPS1外显子6中的突变进一步提示患者患有I型TRPS,并提示该外显子的突变可能与该综合征更明显的特征相关.放射学技术和遗传分析在明确诊断中起着关键作用。
