Paediatric Dermatology Unit, National Reference Center for Rare Skin Disorders, Hôpital Pellegrin-Enfants, Bordeaux University Hospitals, Bordeaux, France.
Molecular Genetics Laboratory, CHU de Bordeaux, Bordeaux, France.
Pigment Cell Melanoma Res. 2018 Mar;31(2):318-329. doi: 10.1111/pcmr.12651. Epub 2017 Oct 21.
Albinism is a rare genetic disease, comprising syndromic and non-syndromic forms. We assessed clinical and genetic characteristics in a prospective evaluation of 64 patients (33 children and 31 adults) seen at a specialized day hospital. Causative genetic mutations were found in TYR (23/64, 35.9%), OCA2 (19/64, 29.7%), TYRP1 (1/64, 1.6%), SLC45A2 (12/64, 18.7%), C10orf11 (1/64, 1.6%), HPS1 (3/64, 4.7%), HPS5 (1/64, 1.5%), HPS6 (1/64, 1.6%) and GPR143 (2/64, 3.1%). Causative mutations remained undetermined for one patient (1.6%). Heterogeneity for hair and skin phenotype was noted across and within the different genotypes. Skin and hair hypopigmentation did not correlate with visual impairment. The diagnosis of unrecognized syndromic forms and of cases of ocular albinism in this prospective and comprehensive series of patients with albinism in a European setting is remarkable. Photoprotection was overall good but not optimal.
白化病是一种罕见的遗传疾病，包括综合征和非综合征形式。我们在一家专门的日间医院对 64 名患者（33 名儿童和 31 名成人）进行了前瞻性评估，评估了他们的临床和遗传特征。在 TYR（23/64，35.9%）、OCA2（19/64，29.7%）、TYRP1（1/64，1.6%）、SLC45A2（12/64，18.7%）、C10orf11（1/64，1.6%）、HPS1（3/64，4.7%）、HPS5（1/64，1.5%）、HPS6（1/64，1.6%）和 GPR143（2/64，3.1%）中发现了致病基因突变。一名患者（1.6%）的致病突变仍未确定。不同基因型之间和内部的头发和皮肤表型存在异质性。皮肤和头发色素减退与视力损害无关。在欧洲白化病患者的这一前瞻性和全面系列中，注意到未被识别的综合征形式和眼部白化病的诊断。总体而言，光保护良好，但并非最佳。
