ICD-11 classes
20 Developmental anomalies
Structural developmental anomalies primarily affecting one...
Structural developmental anomalies of the eye, eyelid or...
LA13 — Structural developmental anomalies of the posterior segment...
LA13.0 — Congenital anomalies of the vitreous
LA13.3 — Congenital vitreoretinal dysplasia
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:

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