Dermatology Department, Hospital Universitari Son Espases, Palma de Mallorca, Spain.
Pediatric Hematology and Oncology Department, Hospital Universitari Son Espases, Palma de Mallorca, Spain.
Clin Exp Dermatol. 2018 Dec;43(8):913-916. doi: 10.1111/ced.13668. Epub 2018 Jun 16.
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.
Ras 相关自身免疫性白细胞增生性疾病（RALD）是一种与体细胞 KRAS 突变相关的非恶性综合征。据我们所知，我们报告了首例 RALD 伴皮肤损害的患者。一名 8 岁男孩出现面部和身体红斑疹，伴淋巴结病和脾肿大，但无全身症状。皮肤活检、外周血和骨髓均发现单核细胞增多。怀疑为幼年髓单核细胞白血病（JMML）。外周血基因研究显示 KRAS、PTPN11、NRAS、CBL 或 BCR-ABL 基因无突变，但骨髓分析显示 KRAS 基因存在突变（p-G12S/c.34 G>A）。核型正常。唾液的分子分析未发现 KRAS 突变。提出 RALD 的诊断。RALD 和 JMML 的鉴别诊断具有挑战性，因为目前尚无区分两者的既定标准。RALD 的临床病程不确定，因此建议长期随访。
