ICD-11 classes
14 Diseases of the skin
Genetic and developmental disorders affecting the skin
Genetic syndromes affecting the skin
LD27.0 — Ectodermal dysplasia syndromes
LD27.00 — Incontinentia pigmenti
ICD-11 LD27.00 — Incontinentia pigmenti
Incontinentia pigmenti is an X-linked dominant gene disorder due to abnormalities of the NF-kappa-B (NEMO) gene on chromosome Xq28. It is lethal in male fetuses but the presence of a normal second X chromosome in females results in a mosaicism which is compatible with life. Affected females present in infancy with skin blisters in linear arrays (Blaschko lines) typically on the scalp and limbs. Within the first few months of life these are succeeded by warty changes and hyperpigmentation. These tend to resolve over time, often leaving atrophic streaks. Associated features include abnormal dentition, ocular defects and a variety of neurological complications.
The diagnosis includes nothing.
The diagnosis excludes nothing.
It has no clarifying diagnoses.
The diagnosis is coded elsewhere:
- Congenital vitreoretinal dysplasia #9748
- Congenital vitreoretinal dysplasia #10509
- Congenital vitreoretinal dysplasia #10513
- Syndromic genetically-determined hypermelanosis or lentiginosis #15989
- Syndromic genetically-determined hypermelanosis or lentiginosis #16277
- Congenital vitreoretinal dysplasia #22337
- Congenital vitreoretinal dysplasia #22341
- Ectodermal dysplasia syndromes #23325
- Conditions with disorders of intellectual development as a relevant clinical feature #23735