Incontinentia pigmenti, also known as Bloch-Sulzberger syndrome, is a rare condition that can affect many body systems, specially the skin. As a X-linked 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:
- Vesicles and linear inflammatory blistering occurring at birth or during the first two months of life.
- Hyperkeratotic, verrucous, linear plaques that may last months.
- Brown or greyish-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.
- 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:
- mental retardation
- ischemic strokes
- 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:
- 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.
- cerebral atrophy
- hypoplasia of corpus callosum
- periventricular white matter damage
- porencephalic cysts
- neuronal heterotopias
Head and face
- optic atrophy
- anophthalmia (absence of eye)
- hypodontia (small teeth)
- partial anodontia (lack of teeth)
- impacted dentition
- skull deformities
- supranumerary ribs
- hemiatrophy and shortening of the legs and arms
Treatment and prognosis
There is no specific treatment. The skin lesions generally regress spontaneously and all the treatment is based on symptomatology.
History and etymology
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.
- neurofibromatosis type 1 (NF1) (von Recklinghausen disease)
- neurofibromatosis type 2 (NF2) (mnemonic)
- tuberous sclerosis (Bourneville-Pringle disease)
- ataxia telangiectasia
- Sturge-Weber syndrome (encephalotrigeminal angiomatosis)
- von Hippel-Lindau disease (retinocerebellar angiomatosis)
- incontinentia pigmenti (Bloch-Sulzberger syndrome)
- basal cell naevus syndrome (Gorlin-Goltz syndrome)
- Wyburn-Mason syndrome (Bonnet-Dechaume-Blanc syndrome)
- encephalocraniocutaneous lipomatosis
- hypomelanosis of Ito
- Nijmegen breakage syndrome
- epidermal naevus syndrome
- neurocutaneous melanosis
- progressive facial hemiatrophy (Parry-Romberg syndrome)
- PHACE syndrome
- Cowden disease/COLD syndrome
- Gomez-Lopez-Hernandez syndrome
- 1. Pereira MA, Mesquita LA, Budel AR et-al. X-linked incontinentia pigmenti or Bloch-Sulzberger syndrome: a case report. An Bras Dermatol. 2010;85 (3): 372-5. doi:10.1590/S0365-05962010000300013 - Pubmed citation
- 2. Pacheco TR, Levy M, Collyer JC et-al. Incontinentia pigmenti in male patients. J. Am. Acad. Dermatol. 2006;55 (2): 251-5. doi:10.1016/j.jaad.2005.12.015 - Pubmed citation
- 3. Pascual-Castroviejo I, Pascual-Pascual SI, Velázquez-Fragua R et-al. Incontinentia pigmenti: clinical and neuroimaging findings in a series of 12 patients. Neurologia. 2006;21 (5): 239-48. Pubmed citation
- 4. Scheuerle A, Ursini MV. Incontinentia Pigmenti. 1999 Jun 8 [Updated 2010 Oct 28]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1472/
- 5. Mirowski GW, Caldemeyer KS. Incontinentia pigmenti. J. Am. Acad. Dermatol. 2000;43 (3): 517-8. doi:10.1067/mjd.2000.107943 - Pubmed citation
- 6. Maingay-de Groof F, Lequin MH, Roofthooft DW et-al. Extensive cerebral infarction in the newborn due to incontinentia pigmenti. Eur. J. Paediatr. Neurol. 2008;12 (4): 284-9. doi:10.1016/j.ejpn.2007.09.001 - Pubmed citation