eMedicine Specialties > Neurology > Pediatric Neurology
Incontinentia Pigmenti: Follow-up
Updated: Apr 6, 2007
Follow-up
Further Outpatient Care
- Routine ophthalmologic follow-up is essential to prevent blindness. Wong et al recommended frequent examinations, following the schedule below:
- As soon as possible after birth
- Monthly until the infant is 3-4 months of age
- Every 3 months until the child is 1 year old
- Twice a year until the child is 3 years old
- Yearly thereafter
- Ophthalmologic treatments may include the following:
- Photocoagulation for fibrovascular proliferation
- Vitreoretinal surgery for retinal detachments
- Dental (See Physical.)
- Neurologist, only if neurologic abnormalities are present
Patient Education
- Because incontinentia pigmenti is an X-linked dominant disease, genetic counseling regarding the risk of affected offspring is very important.
Miscellaneous
Special Concerns
- Patients should have close ophthalmologic and dental follow-up.
- Prenatal diagnosis is possible for affected woman or families with previously affected children.
More on Incontinentia Pigmenti |
| Overview: Incontinentia Pigmenti |
| Differential Diagnoses & Workup: Incontinentia Pigmenti |
| Treatment & Medication: Incontinentia Pigmenti |
Follow-up: Incontinentia Pigmenti |
| Multimedia: Incontinentia Pigmenti |
| References |
| « Previous Page | Next Page » |
References
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].
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].
Aydingoz U, Midia M. Central nervous system involvement in incontinentia pigmenti: cranial MRI of two siblings. Neuroradiology. Jun 1998;40(6):364-6. [Medline].
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].
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].
Bentolila R, Rivera H, Sanchez-Quevedo MC. Incontinentia pigmenti: a case report. Pediatr Dent. Jan-Feb 2006;28(1):54-7. [Medline].
Buinauskiene J, Buinauskaite E, Valiukeviciene S. Incontinentia pigmenti (Bloch-Sulzberger syndrome) in neonates. Medicina (Kaunas). 2005;41(6):496-9. [Medline].
Carney RG. Incontinentia pigmenti. A world statistical analysis. Arch Dermatol. Apr 1976;112(4):535-42. [Medline].
Catalano RA. Incontinentia pigmenti. Am J Ophthalmol. Dec 15 1990;110(6):696-700. [Medline].
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].
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].
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].
Ciarallo L, Paller AS. Two cases of incontinentia pigmenti simulating child abuse. Pediatrics. Oct 1997;100(4):E6. [Medline].
Cohen PR. Incontinentia pigmenti: clinicopathologic characteristics and differential diagnosis. Cutis. Sep 1994;54(3):161-6. [Medline].
Effendy I. Mosaicism in human skin. Am J Med Genet. Aug 6 1999;85(4):323. [Medline].
Fiorillo L, Sinclair DB, O''Byrne ML. Bilateral cerebrovascular accidents in incontinentia pigmenti. Pediatr Neurol. Jul 2003;29(1):66-8. [Medline].
Francis JS, Sybert VP. Incontinentia pigmenti. Semin Cutan Med Surg. Mar 1997;16(1):54-60. [Medline].
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].
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].
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].
Goldberg MF, Custis PH. Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome). Ophthalmology. Nov 1993;100(11):1645-54. [Medline].
Gorski JL, Burright EN. The molecular genetics of incontinentia pigmenti. Semin Dermatol. Sep 1993;12(3):255-65. [Medline].
Hadj-Rabia S, Froidevaux D, Bodak N. Clinical study of 40 cases of incontinentia pigmenti. Arch Dermatol. Sep 2003;139(9):1163-70. [Medline].
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].
Happle R. A fresh look at incontinentia pigmenti. Arch Dermatol. Sep 2003;139(9):1206-8. [Medline].
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].
Hatchwell E. Unstable mutation in incontinentia pigmenti?. J Med Genet. Apr 1996;33(4):349-50. [Medline].
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].
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].
Jandeck C, Kellner U, Foerster MH. Successful treatment of severe retinal vascular abnormalities in incontinentia pigmenti. Retina. Aug 2004;24(4):631-3. [Medline].
Jentarra G, Snyder SL, Narayanan V. Genetic aspects of neurocutaneous disorders. Semin Pediatr Neurol. Mar 2006;13(1):43-7. [Medline].
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].
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].
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].
Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet. Jan 1993;30(1):53-9. [Medline].
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].
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].
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].
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].
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].
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].
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].
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].
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].
Online Mendelian Inheritance in Man. Incontinentia pigmenti. Johns Hopkins University, Baltimore, MD. MIM Number: 308310. 5/24/99. [Full Text].
Pacheco TR, Levy M, Collyer JC. Incontinentia pigmenti in male patients. J Am Acad Dermatol. Aug 2006;55(2):251-5. [Medline].
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].
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].
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].
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].
Roberts JL. Clarification of a diagnosis of IP. Am J Med Genet. Aug 6 1999;85(4):426; author reply 427. [Medline].
Rott HD. Extracutaneous analogies of Blaschko lines. Am J Med Genet. Aug 6 1999;85(4):338-41. [Medline].
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].
Scheuerle AE. Male cases of incontinentia pigmenti: case report and review. Am J Med Genet. May 18 1998;77(3):201-18. [Medline].
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].
Shaikh S, Trese MT, Archer SM. Fluorescein angiographic findings in incontinentia pigmenti. Retina. Aug 2004;24(4):628-9. [Medline].
Shields CL, Eagle RC, Shah RM. Multifocal hypopigmented retinal pigment epithelial lesions in incontinentia pigmenti. Retina. Mar 2006;26(3):328-33. [Medline].
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].
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].
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].
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].
Sybert VP. Incontinentia pigmenti nomenclature. Am J Hum Genet. Jul 1994;55(1):209-11. [Medline].
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].
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].
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].
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].
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].
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].
Yoshikawa H, Uehara Y, Abe T. Disappearance of a white matter lesion in incontinentia pigmenti. Pediatr Neurol. Oct 2000;23(4):364-7. [Medline].
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].
Further Reading
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
Follow-up: Incontinentia Pigmenti