Incontinentia pigmenti

Orpha code: 464OMIM code: 308300

Definicja

An X-linked syndromic muti-systemic ectodermal dysplasia presenting neonatally in females with a bullous rash along Blaschko's lines (BL) followed by verrucous plaques and hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and can affect the retinal and the central nervous system (CNS) microvasculature. It may have other aspects of ectodermal dysplasia such as sweat gland abnormalities. Germline pathogenic variants in males result in embryonic lethality.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Bloch-Siemens syndrome
Zespół Blocha i Simonsa
Zespół Blocha i Sulzbergera
Bloch-Sulzberger syndrome
Kod ORPHA
464
Kod OMIM
308300
Kod ICD10
Q82.3
Kod ICD11
LD27.00

No additional description.

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