Melorheostosis Isolated to the Calcaneus: A Case Report and Review of the Literature

Woolridge, Bryan; Stone, Neil C.; Denic, Nebojsa

doi:10.1177/107110070502600814

Cited by 6 publications

(3 citation statements)

References 12 publications

(16 reference statements)

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“…In this study, Micro-CT of "myositis ossificans-like" bone biopsied from the patient showed significantly increased porosity with increased tissue vascularity in OR bone, however, no PA region was observed, which may be due to differences in hyperostosis types and biopsy locations. Moreover, consistent with the literature, a large area of LEN and SLS were observed overlying the affected bones in the female patient (Jha et al, 2019;Rhys et al, 1998;Woolridge et al, 2005).…”

Section: Discussionsupporting

confidence: 90%

Clinical characteristics of 10 Chinese patients with melorheostosis and identification of a somatic MAP2K1 variant in one case

Han

Wei

et al. 2022

Molec Gen & Gen Med

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Background Melorheostosis (MEL) is an exceptionally rare sclerosing bone dysplasia with asymmetrically exuberant bone formation and soft tissue lesions in a segmental distribution. We aimed to summarize the clinical characteristics of Chinese MEL patients and identify their pathogenic cause. Methods In total, 10 Chinese MEL patients were recruited, and clinical manifestations and radiological characteristics were recorded. Sanger sequencing of the LEMD3 gene was performed on peripheral blood samples of all patients, while the exome sequencing of matched peripheral blood, melorheostotic bone, and skin lesion samples was conducted on one patient who provided affected bone and skin tissues. Micro‐computed tomography (micro‐CT) was also used to scan the melorheostotic bone tissue. Results We found the average age of the 10 MEL patients was 29.5 years (range 11–40 years), and the major symptoms were bone pain, restricted movement, and bone deformity. The lesions sites were mainly located in femur (8/10), tibia (8/10), fibula (6/10), and foot (7/10), the next was pelvis (4/10), and the last were patella (1/10), hand (1/10) and spine (1/10). Radiological examinations showed a mixture of hyperostosis consisting of classic “dripping candle wax,” “osteoma‐like,” or “myositis ossificans‐like” patterns in most patients. No germline pathogenic variants in the LEMD3 gene were found in all patients, but a disease‐causing somatic variant of MAP2K1 (c.167A > C, p.Gln56Pro) was detected in melorheostotic bone from one patient. Moreover, the micro‐CT analysis showed increased porosity in the melorheostotic bone with somatic MAP2K1 variant. Conclusion This is a summary of the clinical characteristics of Chinese MEL patients and we first identify the somatic MAP2K1 variant in Chinese patients. Our findings validate the molecular genetic mechanism of MEL and broaden its phenotype spectrum in the Chinese population.

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Section: Discussionsupporting

confidence: 90%

Clinical characteristics of 10 Chinese patients with melorheostosis and identification of a somatic MAP2K1 variant in one case

Han

Wei

et al. 2022

Molec Gen & Gen Med

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“…The skin manifestations are generally divided into two groups, vascular and lymphatic or scleroderma [40]. Soft tissue involvement can present as subcutaneous fibrosis, linear scleroderma-like patches, ectopic bone formations, fibroids, fibrolipomas, capillary hemangiomas, lymphangiectasia or arterial aneurysms [41][42][43][44][45]. Soft tissue fibrosis can induce the retraction of ligaments and tendons, so it is possible to observe deformities of the equinovar, valgus or varus foot.…”

Section: Geneticmentioning

confidence: 99%

Clinical and Histopathological Features of Scleroderma-like Disorders: An Update

Foti

Pasquale²,

Bosco

et al. 2021

Medicina

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Scleroderma-like disorders include a set of entities involving cutis, subcutis and, sometimes, even muscular tissue, caused by several pathogenetic mechanisms responsible for different clinical–pathological pictures. The absence of antinuclear antibodies (ANA), Raynaud’s phenomenon and capillaroscopic anomalies constitutes an important element of differential diagnosis with systemic sclerosis. When scleroderma can be excluded, on the basis of the main body sites, clinical evolution, any associated pathological conditions and specific histological features, it is possible to make a correct diagnosis.

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“…Although most patients have only one affected extremity, it is not unusual to have lesions in multiple extremities. Only approximately 400 known cases have been reported worldwide, with an overall prevalence estimated at one per million [6,14].…”

Section: Discussion and Treatmentmentioning

confidence: 99%

Idiopathic Equinocavovarus Foot Deformity in an 8-year-old Girl

Joe

Huitron

Crawford

et al. 2009

Clinical Orthopaedics &Amp; Related Research

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An 8-year-old girl presented to our clinic with a left foot deformity. According to the parents, the girl's foot was normal in appearance until they noticed a prominence on the dorsal aspect of her foot while trying on shoes approximately 1 year previously. The patient also had progressive difficulty with walking owing to frequent inversion injuries, and problems with shoe wear attributable to the development of dorsal foot callosities. Her only other medical history was vesicoureteral reflux, for which she underwent surgery when she was 8 years old.Her physical examination revealed a normal-appearing right foot but an equinocavovarus deformity of the left foot ( Fig. 1). Coleman block testing was normal, indicating a flexible hindfoot deformity. There was no clawing of the toes or intrinsic atrophy. There was a 1.5-cm decrease in left calf circumference measured 15 cm above the medial malleolus compared with the right. Her neurologic examination showed normal patellar tendon and Achilles tendon reflexes, full strength (5/5) of the posterior tibia, anterior tibia, and triceps surae musculature, and normal sensation. No skin stigmata or spinal asymmetry or deformity were observed.We obtained radiographs (Fig. 2) and MR images (Fig. 3) of the foot; MR images of the brain and spine; radiographs (Fig. 4), CT scans (Fig. 5), and MR images (Fig. 6) of the pelvis; and a whole-body bone scan.Based on the history, physical examination, and imaging studies, what is the differential diagnosis? Imaging InterpretationRadiographs of the left foot showed an equinocavovarus deformity and a mixed lytic and sclerotic lesion with dense lobular areas of calcification (Fig. 2). MRI revealed a multifocal stellate lesion in the calcaneus, which was low signal on T1-weighted (Fig. 3A) and T2-weighted (Fig. 3B) images and did not enhance with gadolinium (Fig. 3C). MR images of the brain and spine were normal.The whole-body bone scan showed mild radiopharmaceutical uptake in the left ischium, left proximal femur, and left calcaneus. No other foci of abnormal uptake were evident.Radiographs of the pelvis showed an area of sclerosis in the left ischium, and intrapelvic densities attributable to Each author certifies that he or she has no commercial associations (eg, consultancies, stock ownership, equity interest, patent/licensing arrangements, etc) that might pose a conflict of interest in connection with the submitted article. Each author certifies that his or her institution has approved the reporting of this case report, that all investigations were conducted in conformity with ethical principles of research, and that informed consent for participation in the study was obtained.

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Melorheostosis Isolated to the Calcaneus: A Case Report and Review of the Literature

Cited by 6 publications

References 12 publications

Clinical characteristics of 10 Chinese patients with melorheostosis and identification of a somatic MAP2K1 variant in one case

Clinical characteristics of 10 Chinese patients with melorheostosis and identification of a somatic MAP2K1 variant in one case

Clinical and Histopathological Features of Scleroderma-like Disorders: An Update

Idiopathic Equinocavovarus Foot Deformity in an 8-year-old Girl

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