Incontinentia pigmenti

Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

Hemiatrophy

Undergrowth of the limbs that affects only one side.

Total: 2

(per page)

PMID (PMCID)
20548858	OTHER
	A case of incontinentia pigmenti associated with multiorgan abnormalities.
	Chung WK, Lee DW, Chang SE, Lee MW, Choi JH, Moon KC. Ann Dermatol. 2009;21(1):56-9.
	We describe an 11-month-old girl with incontinentia pigmenti associated with a ventricular septal defect, left hemiatrophy, hemangiomas, an abnormal labial frenum, and spastic cerebral palsy manifested as left hemiplegia and developmental delay.
413437	MIXED_SAMPLE	Infant, Newborn
	Ocular findings in triploidy.
	Fulton AB, Howard RO, Albert DM, Hsia YE, Packman S. Am J Ophthalmol. 1977;84(6):859-67.
	A 16-year-old girl with triploid mosaicism had congenital left facial and body hemiatrophy, both growth and mental retardation, left-sided grand mal seizures, incontinentia pigmenti of both legs, partial syndactyly, and generalized weakness.