Chang Laura M, Reyes Melissa
Kaiser Permanente Los Angeles Medical Center.
Dermatol Online J. 2014 Feb 18;20(2):doj_21540.
Harlequin ichthyosis is a rare congenital ichthyosis classified under the category of Autosomal Recessive Congenital Ichthyoses, which also include lamellar ichthyosis and congenital ichthyosiform erythroderma. It is caused by functional null mutations in the ABCA12 gene, a keratinocyte lipid transporter associated with lamellar granule formation. Patients have a classic clinical presentation at delivery and need neonatal intensive care treatment to maximize their chances of survival. Early oral retinoid therapy has been shown to increase survival in patients with harlequin ichthyosis, and we present a case of a 9-month-old male with this condition who has been treated with isotretinoin since day 7 of life.
丑角样鱼鳞病是一种罕见的先天性鱼鳞病，归类于常染色体隐性先天性鱼鳞病范畴，该范畴还包括板层状鱼鳞病和先天性鱼鳞病样红皮病。它由ABCA12基因的功能性无效突变引起，ABCA12基因是一种与板层颗粒形成相关的角质形成细胞脂质转运蛋白。患者在出生时具有典型的临床表现，需要新生儿重症监护治疗以最大化其存活几率。早期口服维甲酸治疗已被证明可提高丑角样鱼鳞病患者的存活率，我们在此呈现一例9个月大患有此病的男性病例，该患者自出生第7天起就接受了异维甲酸治疗。
