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).
MONDO:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0020174
obsolete precancerous lesion of palpebral epidermis (obsolete MONDO:0020174)
excluded_subClassOf
MONDO:0019287
ectodermal dysplasia syndrome
is_a
MONDO:0020247
congenital vitreoretinal dysplasia
is_a
Bloch-Siemens syndrome
exact
Bloch-Sulzberger syndrome
exact
IP
related
IP2 (formerly)
related
Incontinentia pigmenti syndrome
exact
Incontinentia pigmenti type 2 (formerly)
related
incontinentia pigmenti
exact
incontinentia pigmenti, X-linked dominant
exact