Incontinentia Pigmenti Treatment & Management

  • Author: Kara N Shah, MD, PhD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Jun 4, 2010
 

Medical Care

Treatment is not usually required for the cutaneous lesions, although use of topical tacrolimus and topical corticosteroids has been reported to hasten the resolution of the inflammatory stage.[35, 36] The vesicles of the inflammatory stage should be left intact, and the skin should be monitored for the development of secondary bacterial infections. Emollients and topical antibiotics may be used as needed.

Oral hygiene and regular dental care is necessary, and dental restoration may be indicated.

Seizures should be treated with anticonvulsants. Additionally, routine neurodevelopmental assessments should be made, with referral to occupational and physical therapists as warranted.

Frequent ophthalmologic evaluations are required, especially during the first year of life, in order to diagnose and treat potential ophthalmologic complications.

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Surgical Care

Abnormal retinal fibrovascular proliferation can be treated with xenon laser photocoagulation or cryosurgery.[37, 38]

Retinal detachments may be treated using vitreoretinal surgery.

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Consultations

Consultation with the following specialists may be needed:

  • Dermatologists may help in the initial evaluation and can perform a skin biopsy to aid in diagnosis.
  • Ophthalmologists can perform regular ophthalmologic examinations and manage any ophthalmologic sequelae.
  • Neurologists can perform a complete initial neurologic examination (including imaging studies and EEG), initiate and monitor anticonvulsant therapy in patients with seizures, and facilitate neurodevelopmental evaluation and intervention.
  • General dentists can provide regular dental care, screening for dental complications, and restorative dental care.
  • Geneticists can provide appropriate genetic counseling and genetic testing for the patient and his or her family.
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Contributor Information and Disclosures
Author

Kara N Shah, MD, PhD  Assistant Professor, Department of Pediatrics and Dermatology, University of Pennsylvania School of Medicine; Clinic Director, Pediatric Dermatology, Children's Hospital of Philadelphia

Kara N Shah, MD, PhD is a member of the following medical societies: American Academy of Dermatology, American Academy of Pediatrics, and Society for Pediatric Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

Bernice R Krafchik, MBChB, FRCPC  Professor Emeritus, Department of Pediatrics, Section of Dermatology, University of Toronto

Bernice R Krafchik, MBChB, FRCPC is a member of the following medical societies: American Academy of Dermatology, American Dermatological Association, Canadian Medical Association, College of Physicians and Surgeons of Ontario, Royal College of Physicians and Surgeons of Canada, and Society for Pediatric Dermatology

Disclosure: Nothing to disclose.

David F Butler, MD  Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic

David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi

Disclosure: Nothing to disclose.

Glen H Crawford, MD  Assistant Clinical Professor, Department of Dermatology, University of Pennsylvania School of Medicine; Chief, Division of Dermatology, The Pennsylvania Hospital

Glen H Crawford, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Phi Beta Kappa, and Society of USAF Flight Surgeons

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Department of Dermatology, Geisinger Medical Center

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

References

  1. Maingay-de Groof F, Lequin MH, Roofthooft DW, et al. Extensive cerebral infarction in the newborn due to incontinentia pigmenti. Eur J Paediatr Neurol. Jul 2008;12(4):284-9. [Medline].

  2. Kenwrick S, Woffendin H, Jakins T, et al. Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. Am J Hum Genet. Dec 2001;69(6):1210-7. [Medline]. [Full Text].

  3. Mansour S, Woffendin H, Mitton S, et al. Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection. Am J Med Genet. Mar 1 2001;99(2):172-7. [Medline].

  4. Alikhan A, Lee AD, Swing D, Carroll C, Yosipovitch G. Vaccination as a probable cause of incontinentia pigmenti reactivation. Pediatr Dermatol. Jan 1 2010;27(1):62-4. [Medline].

  5. 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].

  6. Darne S, Carmichael AJ. Isolated recurrence of vesicobullous incontinentia pigmenti in a schoolgirl. Br J Dermatol. Mar 2007;156(3):600-2. [Medline].

  7. Bodak N, Hadj-Rabia S, Hamel-Teillac D, de Prost Y, Bodemer C. Late recurrence of inflammatory first-stage lesions in incontinentia pigmenti: an unusual phenomenon and a fascinating pathologic mechanism. Arch Dermatol. Feb 2003;139(2):201-4. [Medline].

  8. Nicolaou N, Graham-Brown RA. Nail dystrophy, an unusual presentation of incontinentia pigmenti. Br J Dermatol. Dec 2003;149(6):1286-8. [Medline].

  9. Abimelec P, Rybojad M, Cambiaghi S, et al. Late, painful, subungual hyperkeratosis in incontinentia pigmenti. Pediatr Dermatol. Dec 1995;12(4):340-2. [Medline].

  10. 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].

  11. Simmons DA, Kegel MF, Scher RK, Hines YC. Subungual tumors in incontinentia pigmenti. Arch Dermatol. Dec 1986;122(12):1431-4. [Medline].

  12. Macey-Dare LV, Goodman JR. Incontinentia pigmenti: seven cases with dental manifestations. Int J Paediatr Dent. Dec 1999;9(4):293-7. [Medline].

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

  14. Heathcote JG, Schoales BA, Willis NR. Incontinentia pigmenti (Bloch-Sulzberger syndrome): a case report and review of the ocular pathological features. Can J Ophthalmol. Jun 1991;26(4):229-37. [Medline].

  15. Holmstrom G, Thoren K. Ocular manifestations of incontinentia pigmenti. Acta Ophthalmol Scand. Jun 2000;78(3):348-53. [Medline].

  16. Selvadurai D, Salomao DR, Baratz KH. Corneal abnormalities in incontinentia pigmenti: histopathological and confocal correlations. Cornea. Aug 2008;27(7):833-6. [Medline].

  17. Ferreira RC, Ferreira LC, Forstot L, King R. Corneal abnormalities associated with incontinentia pigmenti. Am J Ophthalmol. Apr 1997;123(4):549-51. [Medline].

  18. Turkmen M, Eliacik K, Temocin K, Savk E, Tosun A, Dikicioglu E. A rare cause of neonatal seizure: incontinentia pigmenti. Turk J Pediatr. Jul-Sep 2007;49(3):327-30. [Medline].

  19. Hubert JN, Callen JP. Incontinentia pigmenti presenting as seizures. Pediatr Dermatol. Nov-Dec 2002;19(6):550-2. [Medline].

  20. Cartwright MS, White DL, Miller LM 3rd, Roach ES. Recurrent stroke in a child with incontinentia pigmenti. J Child Neurol. May 2009;24(5):603-5. [Medline].

  21. Kaczala GW, Messer MA, Poskitt KJ, Prendiville JS, Gardiner J, Senger C. Therapy resistant neonatal seizures, linear vesicular rash, and unusually early neuroradiological changes: incontinentia pigmenti: a case report, literature review and insight into pathogenesis. Eur J Pediatr. Sep 2008;167(9):979-83. [Medline].

  22. Hart AR, Edwards C, Mahajan J, Wood ML, Griffiths PD. Destructive encephalopathy in incontinentia pigmenti. Dev Med Child Neurol. Feb 2009;51(2):162-3. [Medline].

  23. Wolf NI, Kramer N, Harting I, et al. 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].

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

  25. Lou H, Zhang L, Xiao W, Zhang J, Zhang M. Nearly completely reversible brain abnormalities in a patient with incontinentia pigmenti. AJNR Am J Neuroradiol. Mar 2008;29(3):431-3. [Medline].

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

  27. Jean-Baptiste S, O'Toole EA, Chen M, Guitart J, Paller A, Chan LS. Expression of eotaxin, an eosinophil-selective chemokine, parallels eosinophil accumulation in the vesiculobullous stage of incontinentia pigmenti. Clin Exp Immunol. Mar 2002;127(3):470-8. [Medline]. [Full Text].

  28. Makris C, Godfrey VL, Krähn-Senftleben G, et al. Female mice heterozygous for IKK gamma/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti. Mol Cell. Jun 2000;5(6):969-79. [Medline].

  29. Schmidt-Supprian M, Bloch W, Courtois G, et al. NEMO/IKK gamma-deficient mice model incontinentia pigmenti. Mol Cell. Jun 2000;5(6):981-92. [Medline].

  30. Pascual-Castroviejo I, Roche MC, Martinez Fernandez V, et al. Incontinentia pigmenti: MR demonstration of brain changes. AJNR Am J Neuroradiol. Sep 1994;15(8):1521-7. [Medline].

  31. Lee AG, Goldberg MF, Gillard JH, Barker PB, Bryan RN. Intracranial assessment of incontinentia pigmenti using magnetic resonance imaging, angiography, and spectroscopic imaging. Arch Pediatr Adolesc Med. May 1995;149(5):573-80. [Medline].

  32. Kasai T, Kato Z, Matsui E, et al. Cerebral infarction in incontinentia pigmenti: the first report of a case evaluated by single photon emission computed tomography. Acta Paediatr. Jun 1997;86(6):665-7. [Medline].

  33. Chan YC, Happle R, Giam YC. Whorled scarring alopecia: a rare phenomenon in incontinentia pigmenti?. J Am Acad Dermatol. Nov 2003;49(5):929-31. [Medline].

  34. Fraitag S, Rimella A, de Prost Y, Brousse N, Hadj-Rabia S, Bodemer C. Skin biopsy is helpful for the diagnosis of incontinentia pigmenti at late stage (IV): a series of 26 cutaneous biopsies. J Cutan Pathol. Sep 2009;36(9):966-71. [Medline].

  35. Kaya TI, Tursen U, Ikizoglu G. Therapeutic use of topical corticosteroids in the vesiculobullous lesions of incontinentia pigmenti. Clin Exp Dermatol. Dec 2009;34(8):e611-3. [Medline].

  36. Jessup CJ, Morgan SC, Cohen LM, Viders DE. Incontinentia pigmenti: treatment of IP with topical tacrolimus. J Drugs Dermatol. Oct 2009;8(10):944-6. [Medline].

  37. Nguyen JK, Brady-Mccreery KM. Laser photocoagulation in preproliferative retinopathy of incontinentia pigmenti. J AAPOS. Aug 2001;5(4):258-9. [Medline].

  38. Batioglu F, Ozmert E. Early indirect laser photocoagulation to induce regression of retinal vascular abnormalities in incontinentia pigmenti. Acta Ophthalmol. Mar 2010;88(2):267-8. [Medline].

  39. Aradhya S, Courtois G, Rajkovic A, et al. Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma). Am J Hum Genet. Mar 2001;68(3):765-71. [Medline]. [Full Text].

  40. Aradhya S, Woffendin H, Jakins T, et al. A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. Hum Mol Genet. Sep 15 2001;10(19):2171-9. [Medline].

  41. 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].

  42. Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol. Aug 2002;47(2):169-87; quiz 188-90. [Medline].

  43. Bodak N, Hadj-Rabia S, Hamel-Teillac D, de Prost Y, Bodemer C. Late recurrence of inflammatory first-stage lesions in incontinentia pigmenti: an unusual phenomenon and a fascinating pathologic mechanism. Arch Dermatol. Feb 2003;139(2):201-4. [Medline].

  44. Bryant SA, Rutledge SL. Abnormal white matter in a neurologically intact child with incontinentia pigmenti. Pediatr Neurol. Mar 2007;36(3):199-201. [Medline].

  45. Darne S, Carmichael AJ. Isolated recurrence of vesicobullous incontinentia pigmenti in a schoolgirl. Br J Dermatol. Mar 2007;156(3):600-2. [Medline].

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

  47. Fusco F, Bardaro T, Fimiani G, et al. 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].

  48. Fusco F, Fimiani G, Tadini G, Michele D, Ursini MV. Clinical diagnosis of incontinentia pigmenti in a cohort of male patients. J Am Acad Dermatol. Feb 2007;56(2):264-7. [Medline].

  49. Goldberg MF. The blinding mechanisms of incontinentia pigmenti. Ophthalmic Genet. Jun 1994;15(2):69-76. [Medline].

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

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

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

  53. Haller-Kikkatalo K, Peters M, Kisand K, Sõritsa A, Reimand T, Salumets A. Incontinentia pigmenti in a female conceived by in vitro fertilization. Am J Med Genet A. Dec 1 2008;146A(23):3092-4. [Medline].

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

  55. Mangano S, Barbagallo A. Incontinentia pigmenti: clinical and neuroradiologic features. Brain Dev. Sep-Oct 1993;15(5):362-6. [Medline].

  56. Menni S, Piccinno R, Biolchini A, Plebani A. Immunologic investigations in eight patients with incontinentia pigmenti. Pediatr Dermatol. Dec 1990;7(4):275-7. [Medline].

  57. Migeon BR, Axelman J, Jan de Beur S, Valle D, Mitchell GA, Rosenbaum KN. Selection against lethal alleles in females heterozygous for incontinentia pigmenti. Am J Hum Genet. Jan 1989;44(1):100-6. [Medline]. [Full Text].

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

  59. Patrizi A, Neri I, Guareschi E, Cocchi G. Bullous recurrent eruption of incontinentia pigmenti. Pediatr Dermatol. Sep-Oct 2004;21(5):613-4. [Medline].

  60. Pellegrino RJ, Shah AJ. Vascular occlusion associated with incontinentia pigmenti. Pediatr Neurol. Feb 1994;10(1):73-4. [Medline].

  61. Pfau A, Landthaler M. Recurrent inflammation in incontinentia pigmenti of a seven-year-old child. Dermatology. 1995;191(2):161-3. [Medline].

  62. 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].

  63. Sebban H, Courtois G. NF-kappaB and inflammation in genetic disease. Biochem Pharmacol. Oct 30 2006;72(9):1153-60. [Medline].

  64. Shah GK, Summers CG, Walsh AW, Neely KA. Optic nerve neovascularization in incontinentia pigmenti. Am J Ophthalmol. Sep 1997;124(3):410-2. [Medline].

  65. Smahi A, Courtois G, Vabres P, et al. 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].

  66. Tanboga I, Kargul B, Ergeneli S, Aydin MY, Atasu M. Clinical features of incontinentia pigmenti with emphasis on dermatoglyphic findings. J Clin Pediatr Dent. Winter 2001;25(2):161-5. [Medline].

  67. 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].

  68. Vicente-Villa A, Lamas JV, Pascual AM, Cuesta DL, Marfa MP, Gonzalez-Ensenat MA. Incontinentia pigmenti: a report of ten cases. Eur J Pediatr. Jan 2001;160(1):64-5. [Medline].

  69. Young A, Manolson P, Cohen B, Klapper M, Barrett T. Painful subungal dyskeratotic tumors in incontinentia pigmenti. J Am Acad Dermatol. Apr 2005;52(4):726-9. [Medline].

  70. Zonana J, Elder ME, Schneider LC, et al. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am J Hum Genet. Dec 2000;67(6):1555-62. [Medline]. [Full Text].

 
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A 19-day-old female neonate with incontinentia pigmenti. Clean tense vesicles in linear groups are seen extending from the inner aspect of the right knee to the posterior aspect of the right leg and right sole.
A 40-day-old female infant who first presented with incontinentia pigmenti when she was aged 19 days. The vesicles have disappeared, leaving a brownish pigmentation with verrucous lesions.
A 20-day-old female neonate with incontinentia pigmenti. Bullae, vesicles, and verrucous lesions are seen on the lower extremities and buttocks.
A 27-day-old female neonate who first presented with incontinentia pigmenti when she was aged 20 days. Note the verrucous eruptions with brownish pigmentation in a streaky linear pattern on the left leg.
Histologic features of a vesicle in a 20-day-old female neonate who presented with incontinentia pigmenti. The epidermis shows acanthosis, spongiosis, and vesicles, which contain an inflammatory infiltrate that includes eosinophils. The epidermis between the vesicles also shows dyskeratotic cells, either singly or in small clusters (hematoxylin and eosin, original magnification X100).
A 7-month-old female infant with incontinentia pigmenti. Brownish pigmentation in a linear whorled or reticular pattern is present on the trunk.
A 1-year-old girl who first presented with incontinentia pigmenti when she was aged 7 months. Note that the pigmentation on the left thigh and leg is similar to that on the trunk.
A 6-year-old girl who first presented with incontinentia pigmenti when she was aged 7 months. Note that the brownish pigmentation on the trunk has largely disappeared, and a small area of pigmentation is left.
Histologic features of the pigmented skin from a 6-year-old girl with incontinentia pigmenti. An inflammatory infiltrate that includes eosinophils is present in the epidermis. Many melanophages are seen in the upper part of the dermis (hematoxylin and eosin, original magnification X100).
 
 
 
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