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Incontinentia pigmenti

G B S1, G S Pai, A H Pai

  • 1Department of Dermatology, K.S.Hegde Medical Academy, Deralakatte, Mangalore, India.

Kathmandu University Medical Journal (KUMJ)
|June 19, 2013
PubMed

Insights

Incontinentia pigmenti is an X-linked dominant disorder causing skin lesions and developmental issues. This case highlights typical symptoms in an infant, including skin eruptions and eye abnormalities.

Area of Science:

  • Genetics
  • Dermatology
  • Ophthalmology

Background:

  • Incontinentia pigmenti (IP) is a rare X-linked dominant disorder.
  • It affects the skin, eyes, central nervous system, and skeletal system.
  • IP is characterized by specific cutaneous manifestations following Blaschko's lines.

Observation:

  • A 30-day-old female infant presented with congenital skin eruptions.
  • Lesions included linear verrucous plaques and vesicles on limbs and trunk.
  • Macular hyperpigmentation in linear and whorled patterns was observed.

Findings:

  • The infant's presentation was consistent with Incontinentia pigmenti.
  • Ophthalmological examination revealed proliferative retinopathy in the right eye.
  • The distribution of skin lesions followed Blaschko's lines.

Implications:

  • Early diagnosis of Incontinentia pigmenti is crucial for managing associated complications.
  • Ophthalmological screening is essential due to the risk of vision impairment.
  • Understanding the genetic basis aids in genetic counseling and family planning.

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