Mithwani Anwar A, Hashmi Asif, Shahnawaz Shahid, Al Ghamdi Yasser
Department of Pediatrics, Armed Forces Hospital, Jubail, Eastern, Saudi Arabia.
BMJ Case Rep. 2014 Mar 7;2014:bcr2013200884. doi: 10.1136/bcr-2013-200884.
Harlequin ichthyosis (HI) is a rare type of congenital ichthyosis associated with poor survival. We report, with photographic record, a male baby born with HI. To the best of our knowledge, this is the first reported case of HI in Saudi Arabia, where the child has survived beyond 7 years. The baby was born at 37 weeks of gestation from consanguineous parents with no inherited skin disorder in the family. The mother was 28 years old with three normal previous pregnancies and healthy babies. At birth, the baby's skin had thick scales separated by deep fissuring. He was managed in intensive care with supportive treatment and frequent application of lubricants, emollients and urea cream. The skin gradually became softened, and began to shed after 6 weeks. After 8 months of inpatient management, he was discharged. He is currently 7 years old and is still being treated for non-bullous congenital ichthyosiform erythroderma.
丑角样鱼鳞病（HI）是一种罕见的先天性鱼鳞病，存活率较低。我们报告一例患有HI的男婴，并附有照片记录。据我们所知，这是沙特阿拉伯首例报告的HI病例，该患儿已存活超过7年。该婴儿孕37周出生，父母为近亲结婚，家族中无遗传性皮肤病。母亲28岁，之前有三次正常妊娠且婴儿健康。出生时，婴儿皮肤有厚鳞屑，伴有深深的皲裂。他在重症监护室接受支持治疗，并频繁涂抹润滑剂、润肤剂和尿素霜。皮肤逐渐变软，6周后开始脱落。经过8个月的住院治疗后出院。他目前7岁，仍在接受非大疱性先天性鱼鳞病样红皮病的治疗。
