Epithelioid sarcoma is a rare soft tissue sarcoma. It is a slow-growing neoplasm, which usually presents as a painless mass in the extremities and typically grows along deep dermal and subcutaneous planes. In contrast to other types of sarcoma, it has a strong tendency for nodal metastasis and local metastasis adjacent to the primary lesion within the affected limb. In this article, we present a case of chronic traumatic ulcer in the upper extremity in an adolescent male that was subsequently diagnosed as epithelioid sarcoma, which is a very unusual mode of presentation of this particular tumour. The patient was treated with wide local excision and reconstruction with a free flap. Histopathological examination and immunochemistry studies confirmed the diagnosis and the patient underwent radiotherapy post-operatively as a part of the treatment regime. His post-treatment period was unremarkable, and he was put on regular surveillance to monitor the development of any signs of disease recurrence. Patients with epithelioid sarcomas often present late due to the slow-growing nature of the tumour. Unusual presentations like this will further delay the diagnosis and treatment, which will eventually worsen the prognosis. Awareness of such presentations can encourage primary care physicians to make early referrals to experts, which, in turn, may help the patients get early treatment and have a better prognosis.
Background Möbius (Moebius) and Poland’s syndromes are two rare congenital syndromes characterized by non-progressive bilateral (and often asymmetric) dysfunction of the 6th and 7th cranial nerves and hypoplasia of the pectoral muscles associated with chest wall and upper limb anomalies respectively. Manifest simultaneously as Poland-Möbius (Poland-Moebius) syndrome, debate continues as to whether this is a distinct nosological entity or represents phenotypic variation as part of a spectrum of disorders of rhomboencephalic development. Etiological hypotheses implicate both genetic and environmental factors. The PLXND1 gene codes for a protein expressed in the fetal central nervous system and vascular endothelium and is thus involved in embryonic neurogenesis and vasculogenesis. It is located at chromosome region 3q21-q22, a locus of interest for Möbius syndrome. Case presentation We present the first report of a patient with Poland-Möbius syndrome and a mutation in the PLXND1 gene. A child with Poland-Möbius syndrome and a maternally inherited missense variant (NM_015103.2:ex14:c.2890G > Ap.V964M) in the PLXND1 gene is described. In order to contextualize these findings, the literature was examined to identify other confirmed cases of Poland-Möbius syndrome for which genetic data were available. Fourteen additional cases of Poland-Möbius syndrome with genetic studies are described in the literature. None implicated the PLXND1 gene which has previously been implicated in isolated Möbius syndrome. Conclusions This report provides further evidence in support of a role for PLXND1 mutations in Möbius syndrome and reasserts the nosological link between Möbius and Poland’s syndromes. Level of evidence Level V, Descriptive Study.
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