Incontinentia pigmenti (IP) is an X-linked dominant genodermatosis mostly affecting females. Cutaneous manifestations are present along the lines of Blaschko and are subdivided into four stages: vesicular, verrucous, hyperpigmented, and atrophic. Other tissues of ectodermal origin are also affected, showing hair abnormalities, dental anomalies, and ophthalmologic and neurologic alterations. Familial incontinentia pigmenti is caused by mutations in the NEMO gene.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD27 Syndromes with skin or mucosal anomalies as a major feature
H00645 Incontinentia pigmenti
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06516 TNF signaling
H00645 Incontinentia pigmenti
