Incontinentia pigmenti

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Name:
Incontinentia pigmenti
Description:

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).

ORPHAcode:
464
Synonyms:
Bloch-Siemens syndrome
Bloch-Sulzberger syndrome
XREF(s):
Created:
23 Aug 2018 - 09:03
Changed:
23 Aug 2018 - 09:03