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.
Highlights
Incontinentia pigmenti (IP), known as Bloch‐Sulzberger syndrome or nuclear factor‐κB essential modulator (NEMO) syndrome, is an uncommon skin disorder characterized by an X‐linked dominant inheritance in the majority of cases [1]
The most notable symptom during the neonatal period is skin lesions, which are characterized by a linear pattern of erythema with vesicles and bullae appearing on the extremities and trunk following birth
Previous clinical studies have reported the involvement of IP syndrome in inflammatory and autoimmune diseases, including atypical enterocolitis, Behçet's syndrome and rheumatoid arthritis [3,4,5]
Summary
Incontinentia pigmenti (IP), known as Bloch‐Sulzberger syndrome or nuclear factor‐κB essential modulator (NEMO) syndrome, is an uncommon skin disorder characterized by an X‐linked dominant inheritance in the majority of cases [1]. This syndrome is known as a multi‐systemic disease, which seriously affects skin, teeth, hair and the central nervous system. The immunodeficiency is severe in surviving males, who are typically affected by rare types of NEMO mutations that differ from the more common deletion This mode of inheritance is associated with male lethality in utero, and the majority of live adult patients are female
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