Mărginean Cristina Oana, Meliţ Lorena Elena, Mărginean Maria Oana
Department of Pediatrics I, University of Medicine and Pharmacy, Tirgu Mureş, Romania.
Medicine (Baltimore). 2017 Jan;96(1):e5824. doi: 10.1097/MD.0000000000005824.
Hereditary multiple exostoses (HME) or osteochondromatosis is a rare autosomal dominant disease characterized by multiple osteochondromas and skeletal deformities.
PATIENT CONCERNS & DIAGNOSES: We present the case of a 5 years and 9 month-old patient who presented with inferior limb pain for approximately 6 months, associating also deformity of the right index finger for a month. Hand X-ray revealed a radiologic abnormality of the right radius, therefore the child was referred to our clinic for further investigations. The X-rays revealed multiple osteochondromas of the radius, metacarpal bones, hand phalangeal bones, femur, tibia, fibula, metatarsal bones, and foot phalangeal bones. We mention that the same radiological aspect was identified in the case of the patient's mother, undiagnosed until that moment.
The particularity of this case consists in identification of a rare genetic pathology, HME in a 5-year-old patient, without any known familial history, after the occurrence of a nontraumatic joint dislocation of the right index finger.
HME is a rare genetic condition, without a curative treatment, burdened by multiple complications, and whose diagnosis is usually established during childhood.
遗传性多发性骨软骨瘤（HME）或骨软骨瘤病是一种罕见的常染色体显性疾病，其特征为多发性骨软骨瘤和骨骼畸形。
我们报告一例5岁9个月大的患者，其下肢疼痛约6个月，右手食指畸形1个月。手部X线检查显示右桡骨存在放射学异常，因此该患儿被转诊至我院作进一步检查。X线检查发现桡骨、掌骨、指骨、股骨、胫骨、腓骨、跖骨和趾骨均有多处骨软骨瘤。我们提到，该患者的母亲也有相同的放射学表现，但此前一直未被诊断。
该病例的特殊之处在于，一名5岁患者在出现右手食指非创伤性关节脱位后，被诊断出一种罕见的遗传疾病——HME，且此前并无任何已知家族病史。
HME是一种罕见的遗传疾病，无法治愈，会引发多种并发症，其诊断通常在儿童期确立。
