Clinical Study of 40 Cases of Incontinentia Pigmenti

摘要: Objective To analyze the distribution of manifestations in a pediatric cohort and define guidelines for follow-up incontinentia pigmenti (IP). Design Retrospective study 47 children referred to Department Pediatric Dermatology with diagnosis IP between 1986 1999. Setting The private or institutional practice participating dermatologists pediatricians. Main Outcome Measures Evaluation clinical using Landy Donnai criteria. Results Because hyperpigmentation following Blaschko lines may be observed several pigmented disorders, 7 patients were found misdiagnosed. During neonatal period, erythema, vesicles, hyperkeratotic le sions rarely absent IP. Ocular neurological abnormalities frequent (20% 30%, respectively) but severe (8% 7.5%, respectively). Conclusions Clinical is first main step correct phenotype/genotype correlation, which remains indispensable better understand pathological mechanisms develop new therapies. In doubtful cases, molecular analysis helpful characteristic histological features must added as major criteria diagnosis. Multidisciplinary needed, particularly during year life, detect possible ophthalmologic complications. Neuroimaging ought performed case abnormal examination results when vascular retinopathy detected.