Incontinentia pigmenti

Andrew Murphy and Dr Bruno Di Muzio et al.

Incontinentia pigmenti, also known as Bloch-Sulzberger syndrome, is a rare condition that can affect many body systems, especially the skin. As an X-linked dominant genetic disorder, it occurs much more often in females than in males.

Incontinentia pigmenti is rare and the true prevalence is unknown. Approximately 1000 cases have been reported in the literature 4. There is a female:male sex ratio of 20–37:1 6.

There are four classic cutaneous phases that may be concomitant or sequential 1

  1. vesicles and linear inflammatory blistering occurring at birth or during the first two months of life.
  2. hyperkeratotic, verrucous, linear plaques that may last months.
  3. brown or grayish-blue hyperpigmentation, distributed in Blaschko's lines (lines of normal cell development in the skin) or in swirling patterns that appear in infancy and fade slowly until they disappear in adulthood.
  4. hypopigmented linear macules on the trunk and limbs usually observed in adulthood.

Extracutaneous manifestations (~75%) 1:

  • neurologic involvement has been correlated with the neonatal scalp lesions in the first months of life, suggesting a non-progressive inflammatory process of unknown etiology that leads to: 
    • intellectual disability
    • ischemic strokes
    • hydrocephaly
    • anatomical abnormalities
  • seizures are reported as consequence of these conditions 3
  • ocular lesions were observed only in patients with severe cerebral demage 3 and include: 
    • anophthalmia
    • microphthalmia
    • strabismus
  • dental: hypodontia and partial anodontia 
  • musculoskeletal disorders

This condition is related to mutations in NF-kappa B essential modulator (NEMO) gene of the kappa B genetic factor, located in the long arm of the Xq28 chromosome 6. This gene is related to codify proteins that helps protect cells from apoptosis in response to certain signals.

When it occurs in males it is usually lethal, however, cases have been reported in male patients with Klinefelter syndrome or with a mosaic karyotype for this syndrome (post-zygotic mutations) 1-2.

There is no specific treatment. The skin lesions generally regress spontaneously and all the treatment is based on symptomatology. 

The syndrome was first described by Garrod A.E. et al. in 1906. 

Bruno Block, a German dermatologist presented a case in 1926 to the Swiss Society for Dermatology referring to this new clinical condition as incontinentia pigmenti. The term incontinentia pigmenti comes from the skin lesions microscopic appearance characterized by the presence of loose pigment in the basal layer of the epidermis (melanin-incontinence) 1.

The syndrome was described in 1928 by Marion Sulzberger (1895–1983), an American dermatologist.

Article information

rID: 32122
Section: Syndromes
Tag: cases, cases
Synonyms or Alternate Spellings:
  • Nevus pigmentosus systematicus
  • Block-Sulzberger syndrome
  • Bloch–Siemens disease
  • Melanoblastosis cutis
  • Incontinentia-pigmenti

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