Nguyen Alexandre, Martin Silva Nicolas, de Boysson Hubert, Damaj Gandhi, Aouba Achille
CHU de Caen, Department of Internal Medicine and Clinical Immunology, Caen, France.
CHU de Caen, Department of Clinical Haematology, Caen, France.
Swiss Med Wkly. 2018 Apr 24;148:w14606. doi: 10.4414/smw.2018.14606. eCollection 2018.
Cartilage hair hypoplasia (CHH) is a rare autosomal recessive ribosomopathy characterised by skeletal and integumentary system manifestations. It may also present with varied forms and intensities of haematopoietic and/or immune disorders. We report a 27-year-old female who presented a picture of combined immunodeficiency after receiving an adriamycin-based chemotherapy regimen followed by autologous stem cell transplantation. Her medical history indicated neonatal dwarfism, recurrent ear, nose and throat and respiratory infections, and hypogammaglobulinaemia, which were suggestive of a primary minor B-cell immune deficiency. Taken together, the diagnosis of cartilage hair hypoplasia was suspected and confirmed by means of molecular biological analysis. Here, we discuss the causal relationship and molecular mechanisms existing between both primary immunodeficiency and lymphoma conditions and between chemotherapy cytotoxicity and aggravation of the immune system and associated hematopoietic dysfunction, considering the role of all these components in light of the initially undiagnosed cartilage hair hypoplasia. Finally, this case highlights the importance of screening for primary immunodeficiencies in the setting of a diagnosis of lymphoma and/or dwarfism; moreover, CHH must be distinguished from other causes of small size; its diagnosis and complete check-up must include the molecular characterisation, and its management must be global in collaboration with haematologists, immunologists and internists.
软骨毛发发育不全（CHH）是一种罕见的常染色体隐性核糖体病，其特征为骨骼和皮肤系统表现。它也可能表现为各种形式和强度的造血和/或免疫紊乱。我们报告一名27岁女性，在接受基于阿霉素的化疗方案后进行自体干细胞移植，出现了联合免疫缺陷的情况。她的病史显示有新生儿侏儒症、反复的耳鼻喉和呼吸道感染以及低丙种球蛋白血症，提示存在原发性轻度B细胞免疫缺陷。综合考虑，怀疑并通过分子生物学分析确诊为软骨毛发发育不全。在此，我们讨论原发性免疫缺陷与淋巴瘤疾病之间以及化疗细胞毒性与免疫系统加重和相关造血功能障碍之间存在的因果关系和分子机制，鉴于所有这些因素在最初未诊断出的软骨毛发发育不全中的作用。最后，该病例突出了在淋巴瘤和/或侏儒症诊断背景下筛查原发性免疫缺陷的重要性；此外，必须将CHH与其他导致身材矮小的原因区分开来；其诊断和全面检查必须包括分子特征分析，并且其管理必须由血液科医生、免疫科医生和内科医生共同进行全面协作。
