Rebora A, Crovato F
J Am Acad Dermatol. 1987 May;16(5 Pt 1):940-7. doi: 10.1016/s0190-9622(87)70118-2.
An autosomal recessive syndrome is described that associates extreme photosensitivity with a defect of the deoxyribonucleic acid (DNA) excision repair system, mild noncongenital ichthyosis, brittle cystine-deficient hair, impaired intelligence, neurologic disorders, and short stature. A curious very sociable behavior, cataract and retinal dystrophy, recurrent infections, and unusual face are additional features. Fertility may be decreased. This syndrome is related to xeroderma pigmentosum complementation group D but differs from it in the absence of skin tumors, at least in the first two decades of life.
描述了一种常染色体隐性综合征，其将极度光敏性与脱氧核糖核酸（DNA）切除修复系统缺陷、轻度非先天性鱼鳞病、脆的胱氨酸缺乏毛发、智力受损、神经障碍和身材矮小相关联。奇特的非常善于社交的行为、白内障和视网膜营养不良、反复感染以及异常面容是其他特征。生育能力可能会降低。该综合征与着色性干皮病互补组D相关，但在至少生命的前二十年中没有皮肤肿瘤这一点上与之不同。
