Poliak Nina, Le Alexandre, Rainey Anthony
The Wright Center for Graduate Medical Education, Scranton, PA 18510, USA; Department of Pediatrics, The Commonwealth Medical College, Scranton, PA 18509, USA.
The Wright Center for Graduate Medical Education, Scranton, PA 18510, USA.
Case Rep Pediatr. 2016;2016:9512627. doi: 10.1155/2016/9512627. Epub 2016 Apr 19.
We present a 12-month-old Hispanic female with a reticulated, hyperchromic rash in a striated pattern appearing on upper and lower extremities and trunk and back since the age of 6 weeks. Over the next 10 months, the rash persisted. The rash did not respond to treatment with antifungals and steroids. During her 6-month wellness visit, the patient was diagnosed with incontinentia pigmenti (IP), a rare X-linked dominant disorder, fatal to male fetuses in utero. IP can lead to serious neurological and ophthalmologic consequences. Early diagnosis by primary care physicians and parental education about the condition are essential for prevention of retinal detachment, developmental delay, and dental abnormalities.
我们介绍一名12个月大的西班牙裔女性,自6周龄起,其上肢、下肢、躯干和背部出现呈条纹状的网状、色素沉着过度皮疹。在接下来的10个月里,皮疹持续存在。皮疹对抗真菌药和类固醇治疗无反应。在她6个月的健康检查中,该患者被诊断为色素失禁症(IP),这是一种罕见的X连锁显性疾病,对子宫内的男性胎儿是致命的。IP可导致严重的神经和眼科后果。初级保健医生的早期诊断以及对家长进行关于该疾病的教育对于预防视网膜脱离、发育迟缓及牙齿异常至关重要。