Incontinentia pigmenti is a rare neurocutaneous disorder that may present with neurologic symptoms, in addition to a characteristic vesicular rash within the first days of life. We describe a neonate girl presenting with a rash and an encephalopathy who was first thought to suffer from a viral infection and was only later recognized as being affected by incontinentia pigmenti. Cerebral MR imagi...

Apart from the famously known Koebner's phenomenon in vitiligo patients (development of isomorphic lesions at traumatized uninvolved skin of patients with cutaneous diseases), [2] it is widely known that there is wound-associated pigmentation in normal individuals. The latter could be explained by two major processes; the first is incontinentia pigmenti, which occurs after destroying the basal ...

Incontinentia Pigmenti is an uncommon X-linked genodermatosis, caused by mutations in the NEMO gene. It is a systemic disease that involves tissue of ectodermic and mesodermic origin, including cutaneous tissue, teeth, eyes and the central nervous system, amongst other organs. The Authors report a rare case of Incontinentia Pigmenti in a female newborn.

Incontinentia pigmenti (Bloch-Sulzberger's disease) is an X-linked dominantly inherited disorder which is usually lethal in hemizygous males, but rarely found in male infants. It can be explained by the presence of an extra X chromosome (Klinefelter's syndrome), hypomorphic mutations, and somatic mosaicism. We herein report a rare case of incontinentia pigmenti with typical course of skin manif...

A boy with the cutaneous lesions of incontinentia pigmenti is described. Chromosomal analysis revealed the 47,XXY karyotype of Klinefelter's syndrome. Since incontinentia pigmenti trait is usually lethal in males, the possibility of the second X chromosome protecting against fetal death is discussed.

SUMMARY We report a case of incontinentia pigmenti with reversible cortex and subcortical white matter necrosis-like presentation by MR imaging. The reversible changes in follow-up imaging of the patient with incontinentia pigmenti suggest a course of natural repair of inflammation or cerebrovascular disease.

Incontinentia pigmenti is an uncommon type of ectodermal dyspIasia involving abnormalities of the skin, hair, central nervous system, and teeth. The literature is reviewed and a case with a variety of dental abnormalities is presented. Incontinentia pigrnenti (IP) is one of the lesser known ectodermal dysplasias with fewer than 800 cases reported in the world literature. This genodermatosis aff...

PURPOSE To describe the MR findings in eight girls and women with incontinentia pigmenti, from two families. Four had skin lesions and neurologic disease, and four had only skin lesions. METHODS Eight patients had physical examination, family history, electroencephalogram and MR examination of the brain. MR was repeated in the two cases with more severe changes several years after the first s...

Incontinentia Pigmenti, also known as Bloch-Sulzberger syndrome, is a rare X-linked dominant disorder considered to be lethal in males. The syndrome usually presents at birth or shortly thereafter and the skin rash evolves in the classic four stages of vesicular, verrucous, hyperpigmented, and hypopigmented lesions following a blaschko linear distribution. Here we present an unusual case of Inc...