Ming Andrew, Happle Rudolf, Grzeschik Karl-Heinz, Fischer Gayle
Department of Dermatology, Prince of Wales Hospital, Sydney, Australia.
Pediatr Dermatol. 2009 Jul-Aug;26(4):427-31. doi: 10.1111/j.1525-1470.2009.00946.x.
Ichthyosis follicularis, alopecia and photophobia (IFAP) is a rare genodermatosis. Most patients have been men without significant family history. We present the largest kindred of IFAP reported to date in the medical literature clearly demonstrating X-linked inheritance. The gene defect has recently been mapped to Xp22.11-p22.13. Missense mutations of the gene, MBTPS2, which codes for an intramembrane zinc metalloprotease essential for cholesterol homeostasis and endoplasmic reticulum stress response, are associated with the IFAP phenotype in this kindred. We describe the clinical features and discuss the differential diagnosis of IFAP. Our proband has benefited from treatment with acitretin.
毛囊性鱼鳞病、脱发和畏光症（IFAP）是一种罕见的遗传性皮肤病。大多数患者为男性，无明显家族史。我们报告了医学文献中迄今所报道的最大的IFAP家系，清楚地证明了X连锁遗传。该基因缺陷最近已定位到Xp22.11 - p22.13。编码对胆固醇稳态和内质网应激反应至关重要的膜内锌金属蛋白酶的基因MBTPS2的错义突变与该家系中的IFAP表型相关。我们描述了IFAP的临床特征并讨论了其鉴别诊断。我们的先证者已从阿维A治疗中获益。
