Service d'Anatomie et Cytologie Pathologiques, Centre Hospitalier Universitaire de Montpellier, Montpellier, France2Service d'Anatomie et Cytologie Pathologiques, Université de Montpellier, Montpellier, France3Service de Dermatologie, Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France4Faculté de Médecine, Université de Strasbourg, Strasbourg, France.
Faculté de Médecine, Université de Strasbourg, Strasbourg, France5Service de Pédiatrie 1, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
JAMA Dermatol. 2013 Dec;149(12):1414-8. doi: 10.1001/jamadermatol.2013.6683.
Cockayne syndrome (CS) and cerebro-oculo-facial-skeletal (COFS) syndrome are autosomal recessive diseases that belong to the family of nucleotide excision repair disorders. Our aim was to describe the cutaneous phenotype of patients with these rare diseases.
A systematic dermatologic examination of 16 patients included in a European study of CS was performed. The patients were aged 1 to 28 years. Six patients (38%) had mutations in the Cockayne syndrome A (CSA) gene, and the remaining had Cockayne syndrome B (CSB) gene mutations. Fourteen patients were classified clinically as having CS and 2 as having COFS syndrome. Photosensitivity was present in 75% of the patients and was characterized by sunburn after brief sun exposure. Six patients developed symptoms after short sun exposure through a windshield. Six patients had pigmented macules on sun-exposed skin, but none developed a skin neoplasm. Twelve patients (75%) displayed cyanotic acral edema of the extremities. Eight patients had nail dystrophies and 7 had hair anomalies.
The dermatologic findings of 16 cases of CS and COFS syndrome highlight the high prevalence of photosensitivity and hair and nail disorders. Cyanotic acral edema was present in 75% of our patients, a finding not previously reported in CS.
Cockayne 综合征（CS）和脑眼面骨骼综合征（COFS）是两种常染色体隐性疾病，属于核苷酸切除修复障碍疾病家族。我们的目的是描述这些罕见疾病患者的皮肤表型。
对 16 名纳入欧洲 CS 研究的患者进行了系统的皮肤科检查。患者年龄为 1 至 28 岁。6 名患者（38%）携带 Cockayne 综合征 A（CSA）基因突变，其余患者携带 Cockayne 综合征 B（CSB）基因突变。14 名患者临床分类为 CS，2 名患者分类为 COFS 综合征。75%的患者存在光敏性，表现为短暂暴露于阳光下后晒伤。6 名患者在透过挡风玻璃短时间暴露于阳光下后出现症状。6 名患者在暴露于阳光的皮肤上有色素斑，但均未发生皮肤肿瘤。12 名患者（75%）有四肢发绀性肢端水肿。8 名患者有指甲营养不良，7 名患者有毛发异常。
16 例 CS 和 COFS 综合征的皮肤科发现强调了光敏性以及毛发和指甲疾病的高发率。75%的患者存在发绀性肢端水肿，这在 CS 中以前未有报道。
