Rodrigues Vera, Diamantino Filipa, Voutsen Olga, Cunha Manuel Sousa, Barroso Rosalina, Lopes Maria João Paiva, Carreiro Helena
Department of Pediatrics, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, EPE, Lisboa, Portugal.
BMJ Case Rep. 2011 Aug 11;2011:bcr0120113708. doi: 10.1136/bcr.01.2011.3708.
Incontinentia pigmenti (IP) is a rare multisystem disease, X linked dominant disorder. As all X linked dominant diseases, it is usually male-lethal. Female newborn admitted to the neonatal intensive care unit on the first day of life was diagnosed as having probable herpetic infection with vesicular skin lesions distributed on upper right limb and inferior limbs. Family history showed that her 22-year-old mother had hypopigmented lesions on the lower limbs and her 13-month-old sister had hyperpigmented lesions on the trunk and limbs. In newborns, herpes infection emerges as the principal diagnosis of vesicular rash, due to the importance of precocious diagnosis and treatment. Other hypothesis must be considered in a newborn with vesicobullous rash, such as IP.
色素失禁症（IP）是一种罕见的多系统疾病，为X连锁显性遗传病。与所有X连锁显性疾病一样，该病通常对男性具有致死性。一名出生首日即入住新生儿重症监护病房的女婴被诊断可能患有疱疹感染，其上肢右侧和下肢出现水疱性皮肤损害。家族史显示，她22岁的母亲下肢有色素减退性损害，她13个月大的妹妹躯干和四肢有色素沉着过度性损害。在新生儿中，由于早期诊断和治疗的重要性，疱疹感染是水疱疹的主要诊断。对于患有水疱大疱性皮疹的新生儿，必须考虑其他可能性，如色素失禁症。
