Neonatal incontinentia pigmenti: Six cases and a literature review

Abstract

The aim of this study was to retrospectively analyze the cases of six infants with incontinentia pigmenti (IP) in the Department of Neonates and compare their data with 60 cases of IP reported in the available Chinese literature, in order to determine the clinical characteristics and outcomes of neonatal IP in China. The majority of the cases were located near the eastern and southern coasts of China, and ~98.5% of IP cases occurred within 1 week of birth. The majority of the babies with IP were term infants. Twelve cases had a positive family history of IP. The mothers of 10 patients had a history of recurrent spontaneous abortions, and the mothers of five patients had infectious or autoimmune diseases during pregnancy. Cutaneous manifestations were shown at stage I in 59 cases, at stage II in 28 cases and at stage III in three cases (multiple stages were recorded in certain cases). Neurological changes occurred in 18 cases and ocular changes were observed in 12 cases. The toxoplasmosis, rubella, cytomegalovirus and herpes simplex (TORCH) test showed positive results in three cases; autoantibody positivity was found in three cases and high blood eosinophil levels were observed in 20 cases. Brain scans revealed positive results in 16 cases and complications were observed in 21 cases. Thirty-four cases were followed for 1–6 months, six cases for 7–12 months and 17 cases for 13–84 months. Among these cases, 34 exhibited no evidence of recurrence. Five patients, including one male, succumbed in the long course of the follow-up. Two IP cases persisted after five years of follow-up. The data from the present study may reflect the characteristics of IP in the Chinese population and provide useful information for the diagnosis and treatment of IP by dermatologists and neonatologists.

Incontinencia Pigmenti: rara genodermatosis ligada con el cromosoma X. Reporte de un caso clínico

“…En las mujeres el fenotipo y la severidad del cuadro son extremadamente variables. Fue descrita por Garrod en 1906 y posteriormente definida por Bloch en 1926 y Sulzberger en 1928 como Incontinentia Pigmenti, con base en los hallazgos histopatológicos característicos, aunque no patognomónicos, de las lesiones cutáneas de la tercera fase de la enfermedad [1][2][3][4] .…”

“…Los accidentes cerebrovasculares son la base de las manifestaciones neurológicas en el periodo neonatal y ocurren principalmente en la primera semana de vida. Los signos radiológicos encontrados son compatibles con insuficiencia vascular e incluyen leucomalacia periventricular, cambios glióticos, daño en los ganglios basales y necrosis hemorrágica difusa [1][2][3][4][5] .…”

“…En las mujeres el fenotipo y la gravedad del cuadro clínico son extremadamente variables [1][2][3][4] . Hasta ahora hay alrededor de 800 casos registrados en el mundo y en el 50%-96% de ellos hay historia familiar de esta entidad 3 .…”

Dental anomalies of a child with incontinentia pigmenti: Case report

“…The skin changes are the main characteristic of IP, however, these alterations may regress or even fade over time (Marques et al, 2014). Clinical manifestations vary considerably and may involve ocular, dental and central nervous system (CNS) abnormalities (Yang et al, 2014). Dental manifestations are already known as part of the phenotypic spectrum of IP, but still without a full understanding of its causes and implications for the general health of affected individuals (Poziomczyk et al, 2014).…”

Cerebral Arteriopathy in a Newborn With Incontinentia Pigmenti

“…Central nervous system involvement is noted in 30-50% of patients. 1-3 The typical skin rash is present during the neonatal period and in some infants this coincides with the timing of central nervous system disease. The exact mechanism triggering central nervous system involvement is not clearly understood, as it does not occur in every infant, but oxidative stress may play a role.…”