ICD-11 code : LD27.00;
Preferred Label : Incontinentia pigmenti;
ICD-11 definition : 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.;
ICD-11 synonym : nevus pigmentosus systematicus; Incontinentia pigmenti of Bloch-Sulzberger; Bloch-Siemens syndrome; Bloch-Sulzberger syndrome;
Origin ID : 1542530268;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- ICD-10 Mapping
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.
