Incontinentia pigmenti

Published on 11/06/2015 by admin

Filed under Pediatrics

Last modified 22/04/2025

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Incontinentia pigmenti. Linear vesicles and crusts in an affected newborn girl.

Incontinentia pigmenti. Whorled pigmentation of an extremity in sites of previous blisters.

CLINICAL FEATURES

Incontinentia pigmenti is an X-linked disorder, lethal in males except in mosaic form, caused by mutations in the gene encoding NF-κb essential modifier (NEMO). Four distinct clinical types of skin lesions are seen.

Initial lesions are curvilinear vesicles following the lines of Blaschko occurring in the first few months of life. This is followed by a warty verrucous phase that may last until 1 year.

The third phase is curvilinear macular hyperpigmentation that may occur at areas not initially affected. The hyperpigmentation fades and in adulthood is replaced by hypopigmented, slightly atrophic scarred areas. There may be some overlap of the phases.

Blood eosinophilia may be seen early in life. Dental abnormalities are common including oligodontia, hypodontia and peg-shaped teeth. Retinal vascular proliferation leading to retinal detachment and loss of vision may occur.

CNS disease is reported to occur in up to 20% of children and may present as mental retardation, seizures and spasticity. Rarely, limb abnormalities may also occur.

TREATMENT

No treatment is required for the skin disease. Ophthalmologic examination should be performed on all patients. Referral to dentistry, neurology and orthopedics is dependent on degree of involvement. There are recent reports of systemic glucocorticoids possibly helping in CNS disease.