Incontinentia pigmenti. A four-generation study

Abstract

Seven individual members with incontinentia pigmenti are described from a family spanning four generations. The natural history of the cutaneous, ocular, hair, and dental anomalies is described for each involved member. In addition, a previously undescribed ectodermal defect, woolly-hair nevus, appeared in several affected members of this family. Evidence is offered to support the theory that the pattern of inheritance of incontinentia pigmenti is by linkage of the gene on the X chromosome acting as a dominant gene in females and lethal in males.

Incontinentia pigmenti in Four Generations

“…In accordance with many other reports [ 1,4,8,12], the pedigree which we have report ed here does not prove but suggests the Xlinked theory because all the affected sub jects have been females, transmission has been only via females and affected relatives were only maternal female relatives. In the family spanning three generations, reported by Bjellerup [ 1 ], there were several spontane ous abortions.…”

“…\m ong the 593 female patients there have teen only 16 boys [2], In Carney's World Statistical Analysis, >5% of the cases with adequate genealogical nformation had a positive family history of P. All affected family members have been naternal relatives of the proband. There are /ery few reports of pedigrees with involvenents in three or four successive generations 1,11,12], This report describes a family in which 5 nembers in four generations have IP, asso r t e d with dental anomalies and convulsive lisorders in three generations ( fig. 1).…”

Clinical Study of 40 Cases of Incontinentia Pigmenti

“…5,14 Wooly hair has been reported but hair shaft is usually found normal on microscopic examination. 21 Nail involvement ranges from mild pitting to onychogryphosis. 22 The low frequency of nail anomalies in our study (8% vs 40% elsewhere 5 ) may be related to our recording only severe forms.…”

Unusual Neonatal Presentation of Incontinentia Pigmenti with Persistent Pulmonary Hypertension of the Newborn: A Case Report

“…The other features described in the literature that were seen in our patient were the MRI findings of polymicrogyria and cortical dysplasia, 2 the vascular retinal changes, 10 and alopecia as described by Wiklund and Weston. 11 …”

“…Macular and retinal vasculopathy and ischemia have also been documented early in IP, with subsequent development of neovascularization, in a prospective cohort study. 11 The relationship of the specific IP mutation to the development of severe pulmonary hypertension is unclear, although there is some evidence that the NF-kb signaling pathway, outlined above, is involved in pulmonary vascular development and regulation. NF-kb is responsible for the activation of several cytokines and growth factor genes associated with primary pulmonary hypertension (PPH).…”