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).

Short stature

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).


Total: 2

                      


(per page)
PMID (PMCID)
3876068
MIXED_SAMPLE Infant
Incontinentia pigmenti (IP) and r(X). Tentative mapping of the IP locus to the X juxtacentromeric region.
de Grouchy J, Turleau C, Doussau de Bazignan M, Maroteaux P, Thibaud D.
Ann Genet. 1985;28(2):86-9.
A 45,X/46,X,r(X) mosaicism was observed in an incontinentia pigmenti (Bloch-Sulzberger form) female patient, with mental retardation, short stature, and minor dysmorphisms.
553451
FEMALE Child
Incontinentia pigmenti achromians as part of a neurocutaneous syndrome: a case report.
Hamada K, Tanaka T, Ohdo S, Hayakawa K, Kikuchi I, Katsuya H.
Brain Dev. 1979;1(4):313-7.
A case of incontinentia pigmenti achromians associated with mental retardation, epilepsy, short stature and ocular anomalies was reported.