Incontinentia pigmenti in Infant/Neonate
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Synopsis

Incontinentia pigmenti (IP), or Bloch-Sulzberger syndrome, is an X-linked dominant disease mainly of females that is lethal in males, caused by a mutation in the IKBKG gene. The disease is noticed at birth or within the first few weeks of life. The disease typically progresses through 4 stages: vesicular, verrucous, hyperpigmentation, and hypopigmentation / atrophy. Most cases are associated with developmental abnormalities of the skin, hair, nails, teeth, eyes, and central nervous system. Intellectual disability and epilepsy can be associated. Ocular findings, if present, include both retinal and nonretinal abnormalities, usually related to vascular occlusion.
Codes
ICD10CM:
Q82.3 – Incontinentia pigmenti
SNOMEDCT:
367520004 – Incontinentia pigmenti syndrome
Q82.3 – Incontinentia pigmenti
SNOMEDCT:
367520004 – Incontinentia pigmenti syndrome
Look For
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Diagnostic Pearls
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Differential Diagnosis & Pitfalls
- Stage 1 (vesicular) – congenital herpes simplex, varicella zoster, bullous impetigo, epidermolysis bullosa, bullous congenital ichthyosiform erythroderma
- Stage 2 (verrucous) – verruca vulgaris, linear epidermal nevus, lichen striatus
- Stage 3 (hyperpigmented) – linear and whorled nevoid hypermelanosis (pigmentary mosaicism), Naegeli-Franceschetti-Jadassohn syndrome
- Stage 4 (atrophic / hypopigmented) – hypomelanosis of Ito, focal dermal hypoplasia (Goltz syndrome)
Best Tests
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Management Pearls
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Therapy
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References
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Last Reviewed:01/15/2018
Last Updated:01/17/2022
Last Updated:01/17/2022