Incontinentia Pigmenti
genetically transmitted disorder characterized by cutaneous and neuroectodermal malformations
inherited as an X-linked dominant trait.
EPIDEMIOLOGY
- The true incidence is unknown.
- Majority of patients (97%) are females.
- Males with XXY karyotype (Klinefelter syndrome) may be affected.
- It is lethal to male fetuses.
LABORATORY
- Complete blood count shows associated peripheral eosinophilia.
- Skin biopsy of a blister shows its intraepidermal location with numerous eosinophils.
- Karyotyping of affected males
DIFFERENTIAL DIAGNOSIS
Herpes simplex neonatorum, epidermal nevus, nevoid hypermelanosis, hypomelanosis of Ito, postinflammatory hyperpigmentation
Majority of patients are females.
An affected male must undergo chromosome studies to rule out XXY karyotype.
– Clinical Features of Incontinentia Pigmenti
Skin Lesions
1st stage: linear vesicular lesions at birth
2nd stage: verrucous lesions replace the blisters
3rd stage: whorled hyperpigmented macular lesions that follow Blaschko’s line appear de novo
4th stage: hypopigmented atrophic lesions appear after several years There are four stages of the cutaneous lesions: vesicular, verrucous, whorled hyperpigmented macular, and atrophic.
The other systems most commonly involved are the CNS, dental, and ocular systems.
Majority of patients are females.
An affected male must undergo chromosome studies to rule out XXY karyotype.
TREATMENT
- Depends on the systems involved (e.g., anticonvulsants for seizures, dental surgery, ophthalmologic follow-up)
- Genetic counseling
PROGNOSIS
Normal life span