Shahada Omar, Kurdi Ahmed, Al Ahmadi Duaa
Dermatology, King Salman bin Abdulaziz Medical City, Medina, SAU.
Dermatology, Alrayan Medical College, Medina, SAU.
Cureus. 2022 Mar 27;14(3):e23533. doi: 10.7759/cureus.23533. eCollection 2022 Mar.
Harlequin ichthyosis (HI) is an autosomal recessive disorder. It is a fatal disease and many infants born with HI die shortly after birth. The incidence is extremely rare and is reported to be about 1 in 300,000 births. The hallmark of the disease is alligator-like horned skin that is severely keratinized. Several cases of fetal HI have been reported, but to contribute to the collective knowledge of this rare severe skin disorder, we report the first case, from Medina, Saudi Arabia, of a 45-year-old woman who delivered a newborn infant with HI and has a previous history of six infants who died from a similar condition. Obtaining a prenatal diagnosis, in this case, is critical to alleviate the physical and mental suffering experienced by parents and relatives. Management is mainly supportive until now, as no curable therapy has been proven. Genetic counseling of the ABCA12 gene is advised in consanguinity marriage with positive family history.
丑角鱼鳞病（HI）是一种常染色体隐性疾病。它是一种致命疾病，许多患有HI的婴儿在出生后不久就会死亡。其发病率极其罕见，据报道约为每30万例出生中有1例。该疾病的标志是类似鳄鱼的角质化严重的有角皮肤。已经报道了几例胎儿HI病例，但为了增进对这种罕见严重皮肤病的总体认识，我们报告了首例来自沙特阿拉伯麦地那的病例，一名45岁女性分娩了一名患有HI的新生儿，该女性此前有6名婴儿死于类似病症。在这种情况下，进行产前诊断对于减轻父母及亲属所遭受的身心痛苦至关重要。到目前为止，治疗主要是支持性的，因为尚未证实有可治愈的疗法。对于有阳性家族史的近亲结婚，建议进行ABCA12基因的遗传咨询。
