Hadj-Rabia Smaïl, Froidevaux David, Bodak Nathalie, Hamel-Teillac Dominique, Smahi Asma, Touil Yasmina, Fraitag Sylvie, de Prost Yves, Bodemer Christine
Department of Dermatology, Hôpital Necker-Enfants-Malades, Paris, France.
Arch Dermatol. 2003 Sep;139(9):1163-70. doi: 10.1001/archderm.139.9.1163.
To analyze the distribution of manifestations in a pediatric cohort and define guidelines for follow-up of incontinentia pigmenti (IP).
Retrospective study of 47 children referred to the Department of Pediatric Dermatology with a diagnosis of IP between 1986 and 1999.
The private or institutional practice of participating dermatologists and pediatricians.
Evaluation of IP clinical diagnosis using the Landy and Donnai criteria.
Because hyperpigmentation following the Blaschko lines may be observed in several pigmented disorders, 7 patients were found misdiagnosed. During the neonatal period, erythema, vesicles, and hyperkeratotic le sions were rarely absent in the patients with IP. Ocular and neurological abnormalities were frequent (20% and 30%, respectively) but rarely severe (8% and 7.5%, respectively).
Clinical diagnosis is the first main step for a correct phenotype/genotype correlation, which remains indispensable to better understand the pathological mechanisms of IP and develop new therapies. In doubtful cases, molecular analysis is helpful but characteristic histological features must be added as major criteria for IP diagnosis. Multidisciplinary follow-up is needed, particularly during the first year of life, to detect possible ophthalmologic and neurological complications. Neuroimaging ought to be performed in the case of abnormal neurological examination results or when vascular retinopathy is detected.
分析儿科队列中色素失禁症（IP）的临床表现分布情况，并制定IP随访指南。
对1986年至1999年间被转诊至儿科皮肤科诊断为IP的47例儿童进行回顾性研究。
参与研究的皮肤科医生和儿科医生的私人诊所或机构诊所。
采用兰迪（Landy）和唐奈（Donnai）标准评估IP的临床诊断。
由于在几种色素沉着性疾病中均可观察到沿布拉斯科线（Blaschko lines）的色素沉着，因此发现7例患者被误诊。在新生儿期，IP患者很少没有红斑、水疱和角化过度性病变。眼部和神经异常很常见（分别为20%和30%），但很少严重（分别为8%和7.5%）。
临床诊断是正确进行表型/基因型关联的首要主要步骤，这对于更好地理解IP的病理机制和开发新疗法仍然不可或缺。在可疑病例中，分子分析有帮助，但必须将特征性组织学特征作为IP诊断的主要标准补充进去。需要进行多学科随访，尤其是在生命的第一年，以检测可能的眼科和神经并发症。在神经检查结果异常或检测到视网膜血管病变时，应进行神经影像学检查。
