Hypomelanosis of Ito
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[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