Clinical Characteristics and Follow-up on 6 Cases of Newborn Incontin entia Pigmenti / 实用儿科临床杂志

ABSTRACT

Objective To explore the clinical features,diagnosi s and prognosis of incontinentia pigmenti.Methods Analyzing and summarizing the clinical characteristic, diagnosis and prognosis of neonatal incontinentia pigmenti in 6 neonatal infants that were hospita- lized in our department during the period from January 1 998 to December 2003 were studied,and some relevant literature were reviewed. Results 1.Three of 6 infants were male which was unusual;2.Four infants had typical skin lesions at birth and 1 case at 6 days old.Four cases had typical 3 stages o f skin lesions including the erythematous and vesicular inflammatory stage,verr ucous lesions and hyperkeratosis stage,macular hyperpigmentation stage,but the re was overlap;3.Four infants were complicated by central nervous system involv ement (two cases presented mental retardation,2 infants were temporary damage). Two cases were complicated by ocular manifestations ( one case had optical nerve atrophy and blind in left eye,the other had severe bilateral retinal lesions); 4.On specific examination 5 infants were diagnosed by skin biopsy.Gene analysis was made in 1 case,but we didn′t find the mutations of NEMO. Conclusions Incontinentia pigmenti is a rare X-linked dominant multisystem disease.It may be misdiagnosed in the initial stages.Except typical clinical features,skin biops y and gene analysis are main evidence for diagnosis.Early detection and interven tion are important for prognosis. J Appl Clin Pediatr,2005,20(2)123-125