Kleijer W J, Beemer F A, Boom B W
Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.
Am J Med Genet. 1994 Aug 15;52(2):227-30. doi: 10.1002/ajmg.1320520220.
We describe a girl with photosensitivity (P), ichthyosis (I), brittle hair (B), impaired intelligence (I), possibly decreased fertility (D), and short stature (S). The clinical findings fit into the PIBI(D)S syndrome and trichothiodystrophy. A remarkable and probably unique observation for this disorder was the intermittent character of the scalp hair loss during infectious periods in this patient. Easy suntanning suggested photosensitivity and prompted DNA repair studies which demonstrated reduced UV-induced DNA repair synthesis. Subsequent studies have assigned this patient to xeroderma pigmentosum group D and suggested a specific deficiency of 6-4 photoproduct repair. An unaffected child was diagnosed in the next pregnancy of the mother.
我们描述了一名患有光敏性（P）、鱼鳞病（I）、脆发（B）、智力受损（I）、可能生育能力下降（D）和身材矮小（S）的女孩。临床发现符合PIBI（D）S综合征和毛发硫营养不良。对于这种疾病，一个显著且可能独特的观察结果是该患者在感染期头皮脱发具有间歇性。容易晒黑提示光敏性，并促使进行DNA修复研究，结果显示紫外线诱导的DNA修复合成减少。后续研究将该患者归类为着色性干皮病D组，并提示存在6-4光产物修复的特定缺陷。母亲的下一胎妊娠中诊断出一个未受影响的孩子。
