An unusual diagnosis for an usual test

An unusual diagnosis for an usual test Andrea Trombetta1* Abstract , Vanessa Migliarino1, Flavio Faletra2, Egidio Barbi1,2 and Gianluca Tornese2 Background: Hereditary multiple osteochondromas (HMO) is a genetic condition characterized by the presence of multiple osteochondromas, usually at the lateral side of the most active growth plate of a long bone. These lesions may persist, be asymptomatic during childhood, and may increase in number and size until growth plates close. Therefore, diagnosis of HMO in children and young people can be challenging; while short stature can be more evident at the onset of puberty, asymptomatic ostheocondromas can progress into different degrees of orthopedic deformity. Moreover, multiple complications may arise due to the presence of osteochondromas, including tendon and compression muscle pain, neurovascular disorders, obstetric problems, scoliosis and malignant transformation into secondary peripheral chondrosarcoma in adulthood. Case presentation: We report the case of a girl admitted to our Institute for growth delay. While laboratory tests, including growth hormone stimulation test, were normal, left hand X-ray revealed multiple osteochondromas, suggestive for HMO. The genetic test for EXT1 and EXT2 genes confirmed the radiological diagnosis, with a mutation inherited from the mother who displayed the same radiological abnormalities along with recurrent limb pain episodes. Conclusions: HMO is a genetic condition whose diagnosis can be challenging, especially in females. Every pediatricians should consider a skeletal dysplasia in case of unexplained growth delay and a skeletal survey might be fundamental in reaching a diagnosis. Keywords: Skeletal dysplasia, Hereditary multiple osteochondromas, Growth delay Background HMO is an autosomal dominant disorder characterized by the presence of multiple osteochondromas, usually at the lateral side of metaphyses of long bones. The preva lence of such condition is reported to be 1 in 100.000, although the real incidence could be higher because mild phenotypes are sometimes not detected [1, 2]. Two genes, EXT1 (OMIM: 608177) and EXT2 (OMIM: 608210), which are located respectively at 8q24.11 and 11p11.2, have been identified to cause HMO [3, 4], with an estimated penetrance of 100% [5] and variable ex pressivity, especially in females [2]. Mutations of such genes lead to an insufficient elongation of heparan * Correspondence: 1University of Trieste, Trieste, Italy Full list of author information is available at the end of the article sulfate chains and therefore contribute to disrupt chon drocyte differentiation and proliferation pathways [6]. Osteochondromas may persist, be asymptomatic dur ing childhood, and may increase in number and size until growth plates close. Whereas this condition is gen erally diagnosed before the age of 10 [7], sometimes the diagnosis of HMO in children and young people can be challenging; w