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incontinentia pigmenti; Bloch-Sulzberger syndrome; familial incontinentia pigmenti type II
Some argument whether a sporadic form of incontinentia pigmenti exists.
Pathology:
1) genodermatosis usually prenatally lethal in males
2) in affected females, it causes abnormalities of the skin, hair, eyes, nails, teeth, skeleton, heart, & CNS
3) prominent skin signs occur in 4 cutaneous stages:
a) perinatal inflammatory vesicles
b) verrucous patches
c) pattern of hyperpigmentation
d) dermal scarring
4) pigment within dermal macrophages (incontinent pigment)
5) patent ductus arteriosus
Genetics:
- X-linked
- associated with defects in IKBKG
Clinical manifestations:
1) skin
a) linear blisters & verrucous papules during infancy
b) parallel swirls & streaks of hyperpigmentation appear on the trunk during childhood
c) occasionally streaks of hyperpigmentation appear on the extremities
2) seizures
3) muscle spasms
4) mild paralysis
5) mental retardation
6) strabismus
7) cataracts
8) delayed or impaired dentition (hypodontia)
Laboratory:
-> skin biopsy
Management:
1) visual impairment
a) corrective lenses
b) in severe cases, surgery
2) specialist to treat dental problems
3) seizure control
4) prognosis
a) skin abnormalities usually regress by adolescence or adulthood without treatment, & sometimes disappear completely
b) residual neurological deficits may remain
Related
hypomelanosis of Ito (incontinentia pigmenti achromians)
Specific
familial incontinentia pigmenti; incontinentia pigmenti type II
General
developmental disorder syndrome (multisystem disorder)
genetic disease of the skin (genodermatosis)
Database Correlations
OMIM 308300
References
- OMIM #308300
- Harrison's Principles of Internal Medicine, 13th ed.
Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994,
pg 297, 1038
- NINDS Incontinentia Pigmenti Information Page
https://www.ninds.nih.gov/Disorders/All-Disorders/Incontinentia-Pigmenti-Information-Page
- Genetics Home Reference: Incontinentia pigmenti
http://ghr.nlm.nih.gov/condition=incontinentiapigmenti