McCuaig C, Marcoux D, Rasmussen J E, Werner M M, Gentner N E
Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, Quebec, Canada.
J Am Acad Dermatol. 1993 May;28(5 Pt 2):820-6. doi: 10.1016/0190-9622(93)70109-7.
Three new unrelated cases of PIBIDS (Photosensitivity, Ichthyosis, Brittle, sulfur-deficient hair [trichothiodystrophy], Impaired intelligence, Decreased fertility, and Short stature) are reported. Decreased survival of skin fibroblast lines after UVB exposure was found. All three male patients had hypogonadism and primary end-organ gonadal failure. Striking osteosclerosis was present in all three patients. To the best of our knowledge the third patient is the first reported case of a black man with PIBIDS.
报告了3例新的不相关的光敏感、鱼鳞病、脆发、硫缺乏性毛发（毛发硫营养不良）、智力受损、生育力下降和身材矮小（PIBIDS）病例。发现紫外线B照射后皮肤成纤维细胞系的存活率降低。所有3例男性患者均有性腺功能减退和原发性性腺终末器官功能衰竭。所有3例患者均有明显的骨硬化。据我们所知，第三例患者是首例报道的患有PIBIDS的黑人男性。
Zotero 插件