Kamble Samiksha, Utpat Ketaki, Desai Unnati, Joshi Jyotsna, Bharmal Ramesh
TNMC and BYL Nair Hospital, Pulmonary Department, Mumbai, India.
Turk Thorac J. 2022 Mar;23(2):192-195. doi: 10.5152/TurkThoracJ.2022.20304.
Chromosomal breakage syndromes are a group of genetic disorders that are ascribable to the autosomal recessive mode of inheritance. Xeroderma pigmentosum is one of the chromosomal breakage syndromes which is due to the involvement of deformity in the deoxyribonucleic acid's nucleotide excision repair. Xeroderma pigmentosum is a genetic disorder, which is autosomal recessive, heterogeneous, and more common in cases of consanguinity, caused by mutations in at least 10 genes and 9 complementation groups. The disorder is very rare. Patients experience photophobia and extreme photosensitivity and have pigmentary changes in ultraviolet light-exposed areas of the body with freckling, premalignant, and malignant skin lesions arising in keratinocytes soon after the fleeting exposure to sunlight. Patients are also oversensitive to environmental mutagens such as cigarette smoke and possibly to the widely used agricultural insecticide, diazinon. Progressive neurological abnormalities along with some rare complications are also noticed among these patients. Symptoms and thoracic high-resolution computed tomography are considered for diagnosis. Only corticosteroids can be given to limit the progression of the disease. Xeroderma pigmentosum-related interstitial lung disease is one of the rarest forms and we thereby report an interesting case.
染色体断裂综合征是一组可归因于常染色体隐性遗传模式的遗传性疾病。着色性干皮病是染色体断裂综合征之一，它是由于脱氧核糖核酸核苷酸切除修复中的畸形所致。着色性干皮病是一种遗传性疾病，呈常染色体隐性遗传、具有异质性，在近亲结婚的情况下更为常见，由至少10个基因和9个互补组中的突变引起。这种疾病非常罕见。患者会出现畏光和极度光敏反应，在身体暴露于紫外线的部位出现色素沉着变化，短暂暴露于阳光下后，角质形成细胞中很快会出现雀斑、癌前病变和恶性皮肤病变。患者对环境诱变剂如香烟烟雾也过于敏感，可能还对广泛使用的农用杀虫剂二嗪农敏感。这些患者还会出现进行性神经异常以及一些罕见的并发症。诊断时需考虑症状和胸部高分辨率计算机断层扫描。只能给予皮质类固醇来限制疾病的进展。着色性干皮病相关的间质性肺病是最罕见的形式之一，因此我们报告了一个有趣的病例。
