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.…”

“…In the family spanning three generations, reported by Bjellerup [ 1 ], there were several spontane ous abortions. Wiklund and Weston [12] re ported 2 male abortions in the family with IP spanning four generations. In the actual family there has been only 1 miscarriage.…”

Therapy resistant neonatal seizures, linear vesicular rash, and unusually early neuroradiological changes: incontinentia pigmenti

“…More unusual features include persistent pulmonary hypertension (PPHN) [16], alopezia [16,47], or in the later neonatal period, low concentrations of IgG subclasses [33].…”

Incontinentia pigmenti case series: clinical spectrum of incontinentia pigmenti in 53 female patients and their relatives

“…There have been many case reports but only a few published case series to date that have attempted to document and describe the frequency of the common clinical features in individuals with IP 11,16–23 . Unlike previous studies, our series also included an older group of 28 cases diagnosed from investigation of family pedigrees of probands in an attempt to give clearer estimates of the clinical manifestations of those less severely affected with IP.…”