Professional
Technical
IVT
Incontinentia pigmenti
Pronunciation: in-kon-ti-NEN-shə pig-MEN-tee
X-linked dominant genodermatosis causing staged skin lesions following Blaschko's lines, primarily affecting females.
Full Definition
Incontinentia pigmenti is a rare X-linked dominant disorder caused by mutations in the IKBKG gene, typically lethal in males. Affected females present with four classic stages of skin lesions: vesicular (birth to 4 months), verrucous (2-6 months), hyperpigmented (3 months to adulthood), and hypopigmented (adolescence). The condition may also involve dental, ocular, central nervous system, and hair abnormalities requiring multidisciplinary management.
In Context
- "The newborn's vesicular lesions in a linear pattern suggested incontinentia pigmenti requiring genetic counseling." — Neonatology consultation
- "Ophthalmologic examination is essential in incontinentia pigmenti due to the high risk of retinal abnormalities." — Multidisciplinary care plan
Also known as
Bloch-Sulzberger syndrome
Don't confuse with
hypomelanosis of Ito
linear epidermal nevus
child abuse