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

Abstract

A retrospective case series of 53 female patients with incontinentia pigmenti (IP) including 28 secondary cases (female relatives of probands) was reviewed and compared with other series in an attempt to estimate more accurately the true disease burden of patients with IP. We found that, while the frequency of the first three cutaneous stages of IP was comparable with previous studies, none of the secondary cases manifested any serious neurological complications but all displayed stage IV pale anhidrotic reticulate lines on their posterior calves. This important clinical feature of IP in secondary cases has previously been under-represented in studies that often involved only paediatric probands. Hence, mildly affected cases of IP are often undiagnosed and under-represented in case series to date, possibly leading to inappropriately high estimates of neurological and eye involvement. With the availability of genetic testing, it is now feasible to confirm the variability of the phenotype and the risk of complications in IP.

Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-κB essential modulator gene mutations

“…Characteristic stage 4 lesions have been reported in 27 relatives of IP proband. 13 These lesions may be difficult to detect in women with light skin, but no differential diagnosis can be evoked. In a few cases, IP presents as subtle patchy hairless lesions.…”

“…[7][8][9][10][11][12] In adults, the clinical diagnosis of IP is principally based on the late onset of stage 4 lesions and their association with dental, nail, ocular, or central nervous system anomalies. 13,14 Even so, these lesions are often unrecognized.…”

Incontinentia pigmenti presenting as hypodontia in a 3-year-old girl: a case report

“…The function of NEMO, a 23-kb gene consisting of 10 exons, is to permit cells to respond to external signals such as growth factors [5]. This gene encodes a protein that regulates the function of various chemokines, cytokines and adhesion molecules, and is essential for protection against tumour necrosis factor-induced apoptosis [1,5,6]. …”

“…Although there are many case reports of men with IP submitted to mutation analysis, none of these patients has been shown to carry the common NEMO deletion. Several studies have demonstrated the presence of hypomorphic NEMO alleles, a finding suggesting that less severe NEMO mutations permit the survival of affected men [6,7]. There are also several reports of men with IP who present the 47, XXY karyotype (Klinefelter syndrome) [8,9].…”

Pigmentary disorders of the eyes and skin

“…88,89 Several recent studies show the considerable variation of ocular findings (Table 2). 82,84,85,[90][91][92][93][94][95] Nevus of Ota Background In oculodermal melanocytosis, or nevus of Ota, a hamartoma of spindle-shaped melanocytes can be found in the skin, eyes, and central nervous system. In the skin, the lesion presents as a bluish, black patch most commonly in the areas of the dermis innervated by the first and second divisions of the trigeminal nerve.…”