incontinentia pigmenti; Bloch-Sulzberger syndrome; familial incontinentia pigmenti type II

Introduction

Some argument whether a sporadic form of incontinentia pigmenti exists.

Pathology

• genodermatosis usually prenatally lethal in males
• in affected females, it causes abnormalities of the skin, hair, eyes, nails, teeth, skeleton, heart, & CNS
• prominent skin signs occur in 4 cutaneous stages:
  • perinatal inflammatory vesicles
  • verrucous patches
  • pattern of hyperpigmentation
  • dermal scarring
• pigment within dermal macrophages (incontinent pigment)
• patent ductus arteriosus

Genetics

• X-linked
• associated with defects in IKBKG

Clinical manifestations

• skin
  • linear blisters & verrucous papules during infancy
  • parallel swirls & streaks of hyperpigmentation appear on the trunk during childhood
  • occasionally streaks of hyperpigmentation appear on the extremities
• seizures
• muscle spasms
• mild paralysis
• mental retardation
• strabismus
• cataracts
• delayed or impaired dentition (hypodontia)

Laboratory

• skin biopsy

Management

• visual impairment
  • corrective lenses
  • in severe cases, surgery
• specialist to treat dental problems
• seizure control
• prognosis
  • skin abnormalities usually regress by adolescence or adulthood without treatment, & sometimes disappear completely
  • residual neurological deficits may remain

More general terms

• developmental disorder syndrome (multisystem disorder)
• genetic disease of the skin (genodermatosis)

More specific terms

• familial incontinentia pigmenti; incontinentia pigmenti type II

Additional terms

• hypomelanosis of Ito (incontinentia pigmenti achromians)

Patient information

incontinentia pigmenti patient information

Database

• OMIM: https://mirror.omim.org/entry/308300