title: [Incontinentia pigmenti. A rare disease with many symptoms].
abstract: Incontinentia pigmenti, also known as Bloch-Sulzberger syndrome, is a rare multi-systemic disorder. The disease is characterised by abnormalities in ectodermal tissues including the skin, eyes, central nervous system and dentition. It is inherited as an X-linked dominant trait and is usually fatal for male fetuses. Thirty-eight Swedish patients from 16 families were identified. Thirty patients were examined clinically and their DNA were analysed for deletions in the NEMO-gene. The disease showed a large clinical variability even within families and the common deletion in the NEMO-gene was found present in 70% of the families.
authors: Ogonkliniken, Akademiska sjukhuset, Uppsala.
authors: Gerd
authors: G
authors: Holmström
authors: Birgitta
authors: B
authors: Bergendal
authors: Gunilla
authors: G
authors: Hallberg
authors: Suzanne
authors: S
authors: Marcus
authors: Anders
authors: A
authors: Hallén
authors: Niklas
authors: N
authors: Dahl
mesh_terms: D001927:Brain Diseases / Q000209:etiology / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D003817:Dentition; D003937:Diagnosis, Differential; D005128:Eye Diseases / Q000209:etiology / Q000235:genetics / Q000473:pathology; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007184:Incontinentia Pigmenti / Q000150:complications / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D017410:Practice Guidelines as Topic; D012867:Skin / Q000473:pathology; D014076:Tooth Diseases / Q000209:etiology / Q000235:genetics / Q000473:pathology; D014786:Vision Disorders / Q000209:etiology / Q000235:genetics