[MIM 300 337]

(Incontinentia pigmenti achromians, Incontinentia pigmenti type 1)

Estimated prevalence: 1/10.000. Sporadic, but cases with autosomal dominant, recessive and X-linked inheritance have been reported. Multisystemic neuro-ectodermal disorder characterized by :

-        cutaneous bands of hypopigmentation following Blaschko lines on the limbs and appearing during the first 2 years of life,

-        near-constant involvement of the central nervous system: convulsions, mental retardation

-        ocular anomalies : cataract, nystagmus, strabismus, retinal degeneration.

Skeletal abnormalities may be associated : short stature, facial asymmetry and limbs, dental anomalies, pectus carinatum or excavatum, scoliosis, abnormalities of the hand (fingers).

Anesthetic implications:

Epilepsy

References:

Updated: March 2019