Tahir Amber, Tariq Syed Maaz, Haider Syed Ali, Hasan Mohammad
Internal Medicine, Dow University of Health Sciences, Karachi, PAK.
Internal Medicine, Jinnah Sindh Medical University, Karachi, PAK.
Cureus. 2018 Oct 30;10(10):e3524. doi: 10.7759/cureus.3524.
Harlequin baby is rare and it is the most severe kind of congenital ichthyosis. It manifests as severely keratinized skin with an autosomal recessive inheritance. Incidence of this disease is 1 in 300,000 live births. We report a new case of harlequin ichthyosis (HI) from Pakistan to contribute to the collective knowledge of this condition. HI is associated with gene mutation; hence, genetic screening and counseling to susceptible parents must be considered.
丑角样鱼鳞病很罕见，是最严重的一种先天性鱼鳞病。它表现为皮肤严重角化，呈常染色体隐性遗传。这种疾病的发病率为每30万活产中有1例。我们报告了一例来自巴基斯坦的丑角样鱼鳞病（HI）新病例，以丰富对这种病症的总体认识。HI与基因突变有关；因此，必须考虑对易感父母进行基因筛查和咨询。
