Categories
Integumentary system Ocular System ORGAN SYSTEMS

Incontinentia pigmenti (IP)

Rare neuroectodermal dysplasia with skin lesions, ocular abnormalities in the retina and elsewhere, central nervous system abnormalities, and teeth defects.

Rare neuroectodermal dysplasia with skin lesions, ocular abnormalities in the retina and elsewhere, central nervous system abnormalities, and teeth defects.

  • X-linked dominant inheritance
    • IKBKG/NEMO gene (encodes a kappa light polypeptide gene enhancer in B cells, kinase gamma, which has a key role in the modulation of nuclear transcription factor kappa B (NF-κB)

Incontinentia pigmenti was described by Bloch in 1926 and Sulzberger in 1928 and is hence also known as Bloch–Sulzberger syndrome.


Presentation

Skin lesions:

Presenting manifestation appear at birth or in first 2 weeks of life, progress over a period of years, and are distributed along the Blaschko lines across 4 classic stages (not all patients experience the 4 stages, and the first 3 can appear simultaneously)
  • Stage I | Vesicobullous stage:
    • Blistering (birth to age ~4 months)
  • Stage II | Verrucous/hyperkeratotic stage (70% cases):
    • Wart-like rash (for several months)
  • Stage III | Hyperpigmented stage (98% cases, HALLMARK):
    • Swirling macular hyperpigmentation (~6 months into adulthood)
    • The term incontinentia pigmenti is linked to the histologic characteristics of the lesions in stage 3 of the disease (hyperpigmentation) and specifically to melanin incontinence from melanocytes in the basal epidermal layer and deposits in the superficial dermis.
  • Stage IV | Atrophic/hypopigmented stage: Linear hypopigmentation

Other cutaneous manifestations (28-38% cases):

  • Alopecia
  • Dystrophic nails

Dental abnormalities:

  • Hypodontia
  • Abnormal tooth shape

Neurologic manifestations (30% cases):

  • Tonic or focal clonic seizures (M/C): Last for a short time, and cause loss of consciousness
  • Other disorders: Microcephaly, ischemic stroke, cerebellar ataxia, and delayed psychomotor development.

Eye impairment:

50-77% cases
  • Retinal detachment and avascular retina (M/feared complications)
  • Other complications: Leukocoria, strabismus, intraocular calcification

Diagnosis

Optical coherence tomography (OCT):

  • Internal and external retinal layer thinning

Differential diagnosis:

  • Stage I: Multiple infections of the newborn: Congenital herpes simplex, varicella, epidermolysis bullosa, and bullous pemphigoid
  • Stage II: Linear epidermal nevus
  • Stage III: Linear & whorled nevoid hypermelanosis
  • Stage IV: Hypomelanosis of Ito or vitiligo

Management

Cutaneous manifestations:

Cutaneous manifestations of IP do not require specific treatment, since spontaneous resolution of the lesions usually occurs.
  • Topical steroids: diflucortolone valerate/chlorquinaldol

Retinal complications:

Treatments targeting retinal neovascularization
  • Laser photocoagulation
  • Cryotherapy
  • Vascular endothelial growth factor (VEGF) inhibitors

Leave a Reply

%d