Ras-associated autoimmune leucoproliferative disorder (RALD) is a nonmalignant syndrome associated with somatic KRAS mutations. We report a patient with RALD and cutaneous lesions, the first such case reported, to our knowledge. An 8-year-old boy presented with erythematous plaques on his face and body, along with lymphadenopathies and spleen enlargement without systemic symptoms. An increased number of monocytes were found in skin biopsy, peripheral blood and bone marrow (BM). Juvenile myelomonocytic leukaemia (JMML) was suspected. Genetic study using peripheral blood showed no mutations in the KRAS, PTPN11, NRAS, CBL or BCR-ABL genes, but bone marrow analysis revealed a mutation (p-G12S/c.34 G>A) in the KRAS gene. The karyotype was normal. No KRAS mutations were found using molecular analysis of saliva. The diagnosis of RALD was proposed. The differential diagnosis between RALD and JMML is challenging because there are no established criteria to differentiate between them. The clinical course of RALD is uncertain, so long-term follow-up is recommended.
A broad spectrum of diseases can be included in the differential diagnosis of neck masses. We report a case of extraosseous Ewing sarcoma that presented as a neck mass in a 70-year-old man. To the best of our knowledge, this is the first reported case of extraosseous Ewing sarcoma of the supraclavicular fossa. Published cases of extraosseous Ewing sarcoma in the neck have been described in other age groups, but those tumors were confined to the parapharyngeal space. Also, there have been reported cases in patients older than 70 years in which Ewing sarcoma affected other structures such as the larynx and the pelvis, but none in the soft tissues of the neck. This case adds extraosseous Ewing sarcoma as a possible diagnosis to consider when evaluating a neck mass in the supraclavicular fossa.
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