eMedicine Specialties > Neurology > Pediatric Neurology

Incontinentia Pigmenti

Author: Celia H Chang, MD, Associate Health Sciences Clinical Professor, Department of Neurology, University of California at Davis
Contributor Information and Disclosures

Updated: Apr 6, 2007

Introduction

Background

Incontinentia pigmenti type 2, also known as Bloch-Sulzberger syndrome, is a rare, X-linked, dominantly inherited disorder of skin pigmentation that often is associated with ocular, dental, and central nervous system abnormalities. Incontinentia pigmenti refers to the loss of melanin from basal cells in the epidermis; melanin collects in the dermis as free pigment or aggregates of melanophages. Garrod described the first patient in 1906; Sulzberger described the pathologic changes in 1928; and Haber first recognized the multisystem nature of the disease. Happel first recognized that the skin changes occur along the lines of Blaschko in 1985.

Incontinentia pigmenti was previously described as sporadic with linkage to band Xp11.21 and X-linked dominance at locus Xq28; however, the disease with linkage to band Xp11.21 represents incontinentia pigmenti type 1 or hypomelanosis of Ito.

Pathophysiology

In 2000, the International Incontinentia Pigmenti Consortium reported that incontinentia pigmenti is caused by a genomic rearrangement of the gene for NEMO, or nuclear factor kappa B essential modulator (IKBKG-IKK gamma). The defect in the X chromosome is proximal to the gene for factor VIII at Xq28. Two thirds of new mutations originate with the father. NEMO consists of 10 exons, and most mutations cause deletions of exons 4-10, resulting in a truncated protein. Small duplications, substitutions, and small mutations have also been reported.

Incontinentia pigmenti has also been found to be allelic with hypohidrotic ectodermal dysplasia with severe immunodeficiency (EDAID), an X-linked immunodeficiency syndrome with developmental and immunologic defects in males. Puel et al found that the 110_111insC NEMO mutation is the most upstream premature translation termination codon, but it results in a pure immunodeficiency syndrome because a Kozakian methionine codon reinitiates translation (Puel, 2006).

In 2002, D'Urso reported a second copy of the NEMO gene, deltaNEMO, which is 31.6 kb from exon 10 and contains exons 3-10 (Bardaro, 2003). The deltaNEMO pseudogene deletion has complicated the diagnosis of incontinentia pigmenti.

Activation of the transcription factor nuclear factor KB (NF-KB) requires the NEMO protein. NEMO binds to Lys 63-linked polyubiquitin. NF-KB is important in immune, inflammatory, and apoptotic pathways. NF-KB protects cells from apoptosis in response to tumor necrosis factor-alpha (TNF-alpha). An inhibitory molecule of the IKB family interacts with NF-KB to sequester it in the cytoplasm. The IKB is phosphorylated by a multiprotein complex with two kinases subunits. The NEMO protein is required for the activation of the kinase complex. Hypomorphic mutations may impair but not abolish NEMO protein function.

NEMO is an ubiquitous protein that becomes active during embryogenesis. The skin, eyes, and hair all are affected. In the mouse model, mature osteoclasts, which are essential for tooth eruption, are lacking. In the skin, NF-KB regulates cell growth in the stratified epithelium and apoptosis. NF-KB may also have a role in maintenance of blood vessel architecture. Cerebral microangiopathy and hemorrhagic infarcts cause some of the neurologic morbidity. The skin manifestations occur along the lines of Blaschko, which represent the routes of embryonic cell migration. The skin findings in incontinentia pigmenti represent changes in the epidermal cells. Nenci et al found that TNF signaling is necessary for development of the skin lesions in incontinentia pigmenti (Nenci, 2006).

NEMO mutations have been reported in males with immunodeficiency both with and without anhidrotic ectodermal dysplasia (EDA-ID). EDA-ID is an X-linked condition that is characterized by abnormal teeth, sparse hair, and scarce or absent sweat glands. A more severe NEMO mutation is reported to cause osteopetrosis, lymphedema, and hemangiomas (OL-EDA-ID). Hyper-IgM syndrome is also reported in EDA-ID.

Incontinentia pigmenti can also cause immunodeficiency in women and this may not manifest in the neonatal period. The cells with the NEMO mutation undergo selective apoptosis, which accounts for some of the X inactivation skewing seen in women.

Frequency

International

The incidence of incontinentia pigmenti is 1 case per 40,000 population.

Mortality/Morbidity

Incontinentia pigmenti is a genodermatosis and can be associated with malignancies (ie, chromosomal instability syndrome), such as acute myelogenous leukemia, Wilms tumor, malignant rhabdoid tumors, and retinoblastoma.

Race

Incontinentia pigmenti is more common in whites than in other races.

Sex

  • Usually, incontinentia pigmenti affects only females, as it is an X-linked dominant disease; male fetuses usually do not survive.
  • The male-to-female ratio is from 1:19 to 1:37.

Age

The initial skin lesions are usually present at birth.

Clinical

History

Usually, the diagnosis is made clinically on the basis of a history of sequential cutaneous lesions and associated features. Landy and Donnai (1993) have recommended diagnostic criteria.

  • A least 1 major criteria is necessary for a diagnosis of sporadic incontinentia pigmenti. Major criteria include the following:
    • Typical neonatal rash
    • Typical hyperpigmentation
    • Linear, atrophic, hairless lesions.
  • Individuals with a least 1 first-degree female relative who was previously diagnosed with incontinentia pigmenti may also be diagnosed with minor criteria which include the following:
    • Dental involvement
    • Wooly hair, abnormal nails
    • Retinal disease

Physical

  • Four stages of skin change occur in most patients, mostly on the body along the sides of the torso. Few males develop stage 4 lesions. The stages are as follows:
    • Stage 1 is the vesicular stage, with linear vesicles, pustules, and bullae with erythema along the lines of Blaschko (see Images 1-2). This stage is present at birth but may recur during childhood with febrile illnesses.
    • Stage 2 is the verrucous stage, with warty, keratotic papules and plaques. Stage 2 occurs between ages 2 and 8 weeks.
    • Stage 3 is the hyperpigmented stage, with macular hyperpigmentation in a swirled pattern along the lines of Blaschko (see Images 3-4). These changes often involve the nipples, axilla, and groin. Stage 3 occurs between ages 12 and 40 weeks.
    • Stage 4 is the hypopigmented stage, with hypopigmented streaks and/or patches and cutaneous atrophy. Stage 4 is present from infancy through adulthood.
    • Recurrent papular skin eruptions have also been reported.
  • Onychodystrophy or nail dysplasia occurs in 40-60% of patients with incontinentia pigmenti. Other nail changes can include subungual keratotic tumors.
  • Ocular changes are seen in about one third of female patients and in two thirds of male patients with incontinentia pigmenti. The changes can include the following:
    • Retinal pigmentary changes with mottled diffuse hypopigmentation, which is nearly pathognomonic
    • Abnormal peripheral retinal vessels with areas of nonperfusion, which is also nearly pathognomonic
    • Microphthalmia
    • Retrolental mass formation (pseudoglioma or retinoblastoma with intraocular calcifications)
    • Cataracts, leukocoria, or band keratopathy
    • Strabismus
    • Optic atrophy or foveal hypoplasia
    • Congenital glaucoma
    • Blue sclera
    • Exudative retinal detachment can be very rapidly progressive (<6 mo) or fluctuating over many years.
    • Retinal pigmentary changes
  • Teeth and jaw changes occur in approximately 65-90% of patients. These changes can include delayed eruption of teeth; caries; partial anodontia; hypodontia; microdontia; abnormally shaped teeth—round, conical, or peg; micrognathia; prognathia; and gothic palate. Areas of focal hypermineralization and decreased enamel mineralization can also occur.
  • The hair is thin and sparse; alopecia is seen in 35-70% of people with incontinentia pigmenti. The hair changes can include a wooly hair nevus, which is a coarse, lusterless, and wiry patch of hair.
  • The central nervous system is involved in 10-40% of patients. The manifestations can include the following:
    • Microcephaly
    • Mental retardation
    • Spasticity
    • Seizures
    • Ataxia
    • Encephalopathy
    • Hyperactivity
    • Strokes (see Image 5)
  • Skeletal and structural anomalies can occur in approximately 14% of patients but usually are associated with severe neurological deficits. The anomalies can include the following:
    • Somatic asymmetry
    • Hemivertebrae
    • Scoliosis
    • Spina bifida
    • Syndactyly
    • Acheiria (congential absence of the hands)
    • Ear anomalies
    • Extra ribs
    • Skull deformities
  • Breast anomalies can occur in 1% of patients; anomalies can include hypoplasia and supernumerary.
  • Primary pulmonary hypertension
  • Cardiopulmonary failure

Causes

Most cases are caused by a deletion in the NEMO gene. Approximately one half of all cases are spontaneous mutations. Most of the new mutations occur in the germline cells in the father's gonads.

  • Female carriers may have only subtle findings with stage 4 skin and teeth abnormalities.
  • Males with XXY (ie, Klinefelter syndrome) have been reported. Other males who survived are believed to have postzygotic mutation, half chromatid mutation, an unstable permutation, somatic mosaicism, or hypomorphic mutations. Not all males have evidence of NEMO mutations and may have findings unilaterally or even just in one limb.
  • Almost all women with incontinentia pigmenti have skewed inactivation of the defective X chromosome, which may become more pronounced over time, as it is not always detected in newborns.
  • Other diagnostic considerations: The differential for multiorgan involvement includes the following:
    • MIDAS syndrome - X-linked dominant dermato-ocular syndrome with similar skin changes but different eye changes
    • Hypomelanosis of Ito (incontinentia pigmenti achromians) - Swirls or streaks of hypopigmentation and depigmentation; not inherited; no stage 1 or 2; 33-50% with multisystem involvement—eye, skeletal, neurological abnormalities; Xp11
    • Focal dermal hypoplasia of Goltz - X-linked dominant disorder with similar findings, Xp22
    • Naegeli syndrome - Autosomal dominant dermato-ocular syndrome with symptoms starting at age 2, mostly on the hands and feet, and similar ocular changes
    • X-linked chondrodysplasia punctata—Has more skeletal dysplasia, congenital cataracts, and alopecia, as well as follicular pitting, which is not seen in incontinentia pigmenti
    • Dyskeratosis congenita—Skin findings similar to stages 3 and 4 but no inflammatory changes. It also is associated with progressive pancytopenia with bone marrow failure being a frequent cause of death. This has been mapped to the DKC1 gene, which is proximal to the factor VIII gene on the X chromosome.

More on Incontinentia Pigmenti

Overview: Incontinentia Pigmenti
Differential Diagnoses & Workup: Incontinentia Pigmenti
Treatment & Medication: Incontinentia Pigmenti
Follow-up: Incontinentia Pigmenti
Multimedia: Incontinentia Pigmenti
References
[ CLOSE WINDOW ]

References

  1. Ardelean D, Pope E. Incontinentia pigmenti in boys: a series and review of the literature. Pediatr Dermatol. Nov-Dec 2006;23(6):523-7. [Medline].

  2. Arenas-Sordo Mde L, Vallejo-Vega B, Hernandez-Zamora E. Incontinentia pigmenti (IP2): familiar case report with affected men. Literature review. Med Oral Patol Oral Cir Bucal. 2005;10 Suppl 2:E122-9. [Medline].

  3. Aydingoz U, Midia M. Central nervous system involvement in incontinentia pigmenti: cranial MRI of two siblings. Neuroradiology. Jun 1998;40(6):364-6. [Medline].

  4. Bardaro T, Falco G, Sparago A. Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletion. Hum Mutat. Jan 2003;21(1):8-11. [Medline].

  5. Bell S, Degitz K, Quirling M. Involvement of NF-kappaB signalling in skin physiology and disease. Cell Signal. Jan 2003;15(1):1-7. [Medline].

  6. Bentolila R, Rivera H, Sanchez-Quevedo MC. Incontinentia pigmenti: a case report. Pediatr Dent. Jan-Feb 2006;28(1):54-7. [Medline].

  7. Buinauskiene J, Buinauskaite E, Valiukeviciene S. Incontinentia pigmenti (Bloch-Sulzberger syndrome) in neonates. Medicina (Kaunas). 2005;41(6):496-9. [Medline].

  8. Carney RG. Incontinentia pigmenti. A world statistical analysis. Arch Dermatol. Apr 1976;112(4):535-42. [Medline].

  9. Catalano RA. Incontinentia pigmenti. Am J Ophthalmol. Dec 15 1990;110(6):696-700. [Medline].

  10. Cates CA, Dandekar SS, Flanagan DW. Retinopathy of incontinentia pigmenti: a case report with thirteen years follow-up. Ophthalmic Genet. Dec 2003;24(4):247-52. [Medline].

  11. Chatkupt S, Gozo AO, Wolansky LJ. Characteristic MR findings in a neonate with incontinentia pigmenti. Am J Roentgenol. Feb 1993;160(2):372-4. [Medline].

  12. Cho SY, Lee CK, Drummond BK. Surviving male with incontinentia pigmenti: a case report. Int J Paediatr Dent. Jan 2004;14(1):69-72. [Medline].

  13. Ciarallo L, Paller AS. Two cases of incontinentia pigmenti simulating child abuse. Pediatrics. Oct 1997;100(4):E6. [Medline].

  14. Cohen PR. Incontinentia pigmenti: clinicopathologic characteristics and differential diagnosis. Cutis. Sep 1994;54(3):161-6. [Medline].

  15. Effendy I. Mosaicism in human skin. Am J Med Genet. Aug 6 1999;85(4):323. [Medline].

  16. Fiorillo L, Sinclair DB, O''Byrne ML. Bilateral cerebrovascular accidents in incontinentia pigmenti. Pediatr Neurol. Jul 2003;29(1):66-8. [Medline].

  17. Francis JS, Sybert VP. Incontinentia pigmenti. Semin Cutan Med Surg. Mar 1997;16(1):54-60. [Medline].

  18. Franco LM, Goldstein J, Prose NS. Incontinentia pigmenti in a boy with XXY mosaicism detected by fluorescence in situ hybridization. J Am Acad Dermatol. Jul 2006;55(1):136-8. [Medline].

  19. Fusco F, Bardaro T, Fimiani G. Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation. Hum Mol Genet. Aug 15 2004;13(16):1763-73. [Medline].

  20. Godambe S, McNamara P, Rajguru M. Unusual neonatal presentation of incontinentia pigmenti with persistent pulmonary hypertension of the newborn: a case report. J Perinatol. Apr 2005;25(4):289-92. [Medline].

  21. Goldberg MF, Custis PH. Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome). Ophthalmology. Nov 1993;100(11):1645-54. [Medline].

  22. Gorski JL, Burright EN. The molecular genetics of incontinentia pigmenti. Semin Dermatol. Sep 1993;12(3):255-65. [Medline].

  23. Hadj-Rabia S, Froidevaux D, Bodak N. Clinical study of 40 cases of incontinentia pigmenti. Arch Dermatol. Sep 2003;139(9):1163-70. [Medline].

  24. Happle R. Incontinentia pigmenti versus hypomelanosis of Ito: the whys and wherefores of a confusing issue. Am J Med Genet. Aug 27 1998;79(1):64-5. [Medline].

  25. Happle R. A fresh look at incontinentia pigmenti. Arch Dermatol. Sep 2003;139(9):1206-8. [Medline].

  26. Harris A, Collins J, Vetrie D. X inactivation as a mechanism of selection against lethal alleles: further investigation of incontinentia pigmenti and X linked lymphoproliferative disease. J Med Genet. Sep 1992;29(9):608-14. [Medline].

  27. Hatchwell E. Unstable mutation in incontinentia pigmenti?. J Med Genet. Apr 1996;33(4):349-50. [Medline].

  28. Hayes IM, Varigos G, Upjohn EJ. Unilateral acheiria and fatal primary pulmonary hypertension in a girl with incontinentia pigmenti. Am J Med Genet A. Jun 15 2005;135(3):302-3. [Medline].

  29. Hennel SJ, Ekert PG, Volpe JJ. Insights into the pathogenesis of cerebral lesions in incontinentia pigmenti. Pediatr Neurol. Aug 2003;29(2):148-50. [Medline].

  30. Jandeck C, Kellner U, Foerster MH. Successful treatment of severe retinal vascular abnormalities in incontinentia pigmenti. Retina. Aug 2004;24(4):631-3. [Medline].

  31. Jentarra G, Snyder SL, Narayanan V. Genetic aspects of neurocutaneous disorders. Semin Pediatr Neurol. Mar 2006;13(1):43-7. [Medline].

  32. Kasmann-Kellner B, Jurin-Bunte B, Ruprecht KW. Incontinentia pigmenti (Bloch-Sulzberger-syndrome): case report and differential diagnosis to related dermato-ocular syndromes. Ophthalmologica. 1999;213(1):63-9. [Medline].

  33. Kim BJ, Shin HS, Won CH. Incontinentia pigmenti: clinical observation of 40 Korean cases. J Korean Med Sci. Jun 2006;21(3):474-7. [Medline].

  34. Kirchman TT, Levy ML, Lewis RA. Gonadal mosaicism for incontinentia pigmenti in a healthy male. J Med Genet. Nov 1995;32(11):887-90. [Medline].

  35. Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet. Jan 1993;30(1):53-9. [Medline].

  36. Llombart B, Garcia L, Monteagudo C. Incontinentia pigmenti: a case with an unusual course. J Eur Acad Dermatol Venereol. May 2005;19(3):394-6. [Medline].

  37. Martinez-Pomar N, Munoz-Saa I, Heine-Suner D. A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency. Hum Genet. Dec 2005;118(3-4):458-65. [Medline].

  38. Mayer EJ, Shuttleworth GN, Greenhalgh KL. Novel corneal features in two males with incontinentia pigmenti. Br J Ophthalmol. May 2003;87(5):554-6. [Medline].

  39. Meallet MA, Song J, Stout JT. An extreme case of retinal avascularity in a female neonate with incontinentia pigmenti. Retina. Aug 2004;24(4):613-5. [Medline].

  40. Minic S, Novotny GE, Trpinac D. Clinical features of incontinentia pigmenti with emphasis on oral and dental abnormalities. Clin Oral Investig. Dec 2006;10(4):343-7. [Medline].

  41. Montes CM, Maize JC, Guerry-Force ML. Incontinentia pigmenti with painful subungual tumors: a two-generation study. J Am Acad Dermatol. Feb 2004;50(2 Suppl):S45-52. [Medline].

  42. Moss C. Cytogenetic and molecular evidence for cutaneous mosaicism: the ectodermal origin of Blaschko lines. Am J Med Genet. Aug 6 1999;85(4):330-3. [Medline].

  43. Nenci A, Huth M, Funteh A. Skin lesion development in a mouse model of incontinentia pigmenti is triggered by NEMO deficiency in epidermal keratinocytes and requires TNF signaling. Hum Mol Genet. Feb 15 2006;15(4):531-42. [Medline].

  44. Niehues T, Reichenbach J, Neubert J. Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia. J Allergy Clin Immunol. Dec 2004;114(6):1456-62. [Medline].

  45. Online Mendelian Inheritance in Man. Incontinentia pigmenti. Johns Hopkins University, Baltimore, MD. MIM Number: 308310. 5/24/99. [Full Text].

  46. Pacheco TR, Levy M, Collyer JC. Incontinentia pigmenti in male patients. J Am Acad Dermatol. Aug 2006;55(2):251-5. [Medline].

  47. Parrish JE, Scheuerle AE, Lewis RA. Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2. Hum Mol Genet. Nov 1996;5(11):1777-83. [Medline].

  48. Pascual-Castroviejo I, Pascual-Pascual SI, Velazquez-Fragua R. [Incontinentia pigmenti: clinical and neuroimaging findings in a series of 12 patients]. Neurologia. Jun 2006;21(5):239-48. [Medline].

  49. Phan TA, Wargon O, Turner AM. Incontinentia pigmenti case series: clinical spectrum of incontinentia pigmenti in 53 female patients and their relatives. Clin Exp Dermatol. Sep 2005;30(5):474-80. [Medline].

  50. Puel A, Reichenbach J, Bustamante J. The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation. Am J Hum Genet. Apr 2006;78(4):691-701. [Medline].

  51. Roberts JL. Clarification of a diagnosis of IP. Am J Med Genet. Aug 6 1999;85(4):426; author reply 427. [Medline].

  52. Rott HD. Extracutaneous analogies of Blaschko lines. Am J Med Genet. Aug 6 1999;85(4):338-41. [Medline].

  53. Scheuerle A. Reply to the letter to the editor by landau roberts-"clarification of a diagnosis of IP". Am J Med Genet. Aug 6 1999;85(4):427. [Medline].

  54. Scheuerle AE. Male cases of incontinentia pigmenti: case report and review. Am J Med Genet. May 18 1998;77(3):201-18. [Medline].

  55. Shah SN, Gibbs S, Upton CJ. Incontinentia pigmenti associated with cerebral palsy and cerebral leukomalacia: a case report and literature review. Pediatr Dermatol. Nov-Dec 2003;20(6):491-4. [Medline].

  56. Shaikh S, Trese MT, Archer SM. Fluorescein angiographic findings in incontinentia pigmenti. Retina. Aug 2004;24(4):628-9. [Medline].

  57. Shields CL, Eagle RC, Shah RM. Multifocal hypopigmented retinal pigment epithelial lesions in incontinentia pigmenti. Retina. Mar 2006;26(3):328-33. [Medline].

  58. Smahi A, Hyden-Granskog C, Peterlin B. The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28. Hum Mol Genet. Feb 1994;3(maps to the distal part of Xq28.):273-8. [Medline].

  59. Smahi A, Courtois G, Vabres P. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature. May 25 2000;405(6785):466-72. [Medline].

  60. Smahi A, Courtois G, Rabia SH. The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Hum Mol Genet. Oct 1 2002;11(20):2371-5. [Medline].

  61. Steffann J, Raclin V, Smahi A. A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti. Prenat Diagn. May 2004;24(5):384-8. [Medline].

  62. Sybert VP. Incontinentia pigmenti nomenclature. Am J Hum Genet. Jul 1994;55(1):209-11. [Medline].

  63. Traupe H. Functional X-chromosomal mosaicism of the skin: Rudolf Happle and the lines of Alfred Blaschko. Am J Med Genet. Aug 6 1999;85(4):324-9. [Medline].

  64. Woffendin H, Jakins T, Jouet M. X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation. Clin Genet. Jan 1999;55(1):55-60. [Medline].

  65. Wolf NI, Kramer N, Harting I. Diffuse cortical necrosis in a neonate with incontinentia pigmenti and an encephalitis-like presentation. AJNR Am J Neuroradiol. Jun-Jul 2005;26(6):1580-2. [Medline].

  66. Wong GA, Willoughby CE, Parslew R. The importance of screening for sight-threatening retinopathy in incontinentia pigmenti. Pediatr Dermatol. May-Jun 2004;21(3):242-5. [Medline].

  67. Wu CJ, Conze DB, Li T. Sensing of Lys 63-linked polyubiquitination by NEMO is a key event in NF-kappaB activation [corrected]. Nat Cell Biol. Apr 2006;8(4):398-406. [Medline].

  68. Wu HP, Wang YL, Chang HH. Dental anomalies in two patients with incontinentia pigmenti. J Formos Med Assoc. Jun 2005;104(6):427-30. [Medline].

  69. Yoshikawa H, Uehara Y, Abe T. Disappearance of a white matter lesion in incontinentia pigmenti. Pediatr Neurol. Oct 2000;23(4):364-7. [Medline].

  70. van Leeuwen RL, Wintzen M, van Praag MC. Incontinentia pigmenti: an extensive second episode of a "first-stage" vesicobullous eruption. Pediatr Dermatol. Jan-Feb 2000;17(1):70. [Medline].

[ CLOSE WINDOW ]

Further Reading

[ CLOSE WINDOW ]

Keywords

Bloch-Sulzberger syndrome, incontinentia pigmenti type 2, skin pigmentation disorder, X-linked inherited disorder, loss of melanin, incontinentia pigmenti type 1, hypomelanosis of Ito, IP, hypohidrotic ectodermal dysplasia with severe immunodeficiency, EDAID, anhidrotic ectodermal dysplasia, EDA-ID, osteopetrosis, lymphedema, hemangiomas, OL-EDA-ID, hyper-IgM syndrome, NEMO gene

[ CLOSE WINDOW ]

Contributor Information and Disclosures

Author

Celia H Chang, MD, Associate Health Sciences Clinical Professor, Department of Neurology, University of California at Davis
Celia H Chang, MD is a member of the following medical societies: American Academy of Neurology and Child Neurology Society
Disclosure: Nothing to disclose.

Medical Editor

David A Griesemer, MD, Professor, Departments of Neurology and Pediatrics, Medical University of South Carolina
David A Griesemer, MD is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, and Child Neurology Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Kenneth J Mack, MD, PhD, Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic
Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, and Society for Neuroscience
Disclosure: Nothing to disclose.

CME Editor

Matthew J Baker, MD, Consulting Staff, Collier Neurologic Specialists, Naples Community Hospital
Matthew J Baker, MD is a member of the following medical societies: American Academy of Neurology
Disclosure: Nothing to disclose.

Chief Editor

Nicholas Y Lorenzo, MD, Chief Editor, eMedicine Neurology; Consulting Staff, Neurology Specialists and Consultants
Nicholas Y Lorenzo, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Neurology
Disclosure: Nothing to disclose.

 
 
HONcode

We subscribe to the
HONcode principles of the
Health On the Net Foundation

All material on this website is protected by copyright, Copyright© 1994- by Medscape.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.