Incontinentia pigmenti is a rare, multisystem X-linked dominant genetic disorder caused by mutations in IKBKG, the encoding inhibitor of kappa light polypeptide gene enhancer in B-cells. Almost 80% of all cases result from a recurrent intragenic deletion mutation that removes exon 4-10. At present, this mutation can be detected by a multi-primer polymerase chain reaction (PCR) technique althoug...

A 57-year-old male had been suffering from an itchy map-shaped symmetrical erosive erythema with a crust that was attached to his upper arm and buttock, and occasionally he suffered from spiking fever. Laboratory examinations showed neither anti-desmoglein 1/3 antibodies nor anti-BP 180 antibodies, and he fulfilled the criteria for a diagnosis of systemic lupus erythematosus (SLE). Histological...

IP: incontinentia pigmenti NFkB: nuclear factor kB TNF: tumor necrosis factor INTRODUCTION Incontinentia pigmenti (IP; Bloch-Sulzberger syndrome) is an X-linked dominant genodermatosis that can have several cutaneous, dental, skeletal, neurologic, and ocular manifestations, including retinal detachment, seizures, paralysis, developmental delay, hair loss, and abnormal dentition. Lethal for affe...

Prospective examination of the ocular fundi was carried out in the newborn female sibling of a girl with incontinentia pigmenti and bilateral retinopathy. At age 3 months the new baby's peripheral retina was found to be avascular in both eyes. At age 2 years progressive vascular proliferation at the watershed area between normal and abnormal retina led to bilateral vitreous haemorrhage. The new...

Incontinentia pigmenti (IP) is an X-linked dominant disorder of neuroectodermal development. Based on the observation of six unrelated females with clinical features of nonfamilial IP with constitutional de novo reciprocal X;autosome translocations, a putative incontinentia pigmenti type 1 locus (IP1; MIM No. 308300) was localized to region Xp11.21. Using available regional DNA markers, we cons...