Clinical study of 40 cases of incontinentia pigmenti.

OBJECTIVE: To analyze the distribution of manifestations in a pediatric cohort and define guidelines for follow-up of incontinentia pigmenti (IP).

DESIGN: Retrospective study of 47 children referred to the Department of Pediatric Dermatology with a diagnosis of IP between 1986 and 1999.

SETTING: The private or institutional practice of participating dermatologists and pediatricians.

MAIN OUTCOME MEASURES: Evaluation of IP clinical diagnosis using the Landy and Donnai criteria.

RESULTS: 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).

CONCLUSIONS: 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.