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2010, Number 2

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Dermatología Cosmética, Médica y Quirúrgica 2010; 8 (2)

Incontinentia pigmenti: A review.

Gómez VR, de Anda JM, Plascencia GA, Reyes MG, Saénz CC, Káram M, Arenas R

Language: Spanish
References: 33
Page: 104-109
PDF size: 219.14 Kb.


ABSTRACT

Incontinentia pigmenti is an X-linked dominant genetic disorder with special clinical manifestations that affects skin, eyes, central nervous system and teeth. In the skin the disease has four clinical stages: vesicular, verrucous, hyperpigmented and atrophic. Women are usually affected. NEMO is the gen responsible for the disorder and has been located at Xq28 locus. There is not any definitive treatment and just support therapy is all we can offer. Prognosis is related with severity of the neurologic manifestations. The advance in molecular biology has contributed to the understanding of the disease and offers the possibility in the near future for the development of new therapies.


REFERENCES

  1. Landy SJ, Donnai D. “Incontinentia pigmenti (Bloch-Sulzberger syndrome)”. J Med Genet 1993; 30: 53-9.

  2. Geiges ML. “Traces of Marion B. Sulzberger in the Museum of Wax Moulages in Zurich and their importance for the history of dermatology”. J Am Acad Dermatol 2009; 60: 980-984.

  3. Chang JT, Chiu PC, Chen YY, Wang HP, Hsieh KS. “Multiple clinical manifestations and diagnostic challenges of incontinentia pigmenti —12 years’ experience in 1 medical center”. J Chin Med Assoc 2008; 71: 455-460.

  4. Carney RG. “Incontinentia pigmenti: A world statistical analysis”. Arch Dermatol 1976; 112: 535-542.

  5. Feito-Rodríguez M, García-Macarrón J, Ruiz Bravo-Burguillos E, Vera- Casaño A, Lulas-Laguna R. “Incontinetia pigmenti. Tres nuevos casos que demuestran que no sólo es cosa de mujeres”. Actas Dermosifiliogr 2007; 98: 112-115.

  6. Pacheco TR et al. “Incontinentia pigmenti in male patients”. J Am Acad Dermatol 2006; 55: 251-215.

  7. Fusco F et al. “Clinical diagnosis of incontinentia pigmenti in a cohort of male patients”. J Am Acad Dermatol 2007; 56: 264-267.

  8. Ardelean D, Pope E. “Incontinentia pigmenti in boys: A series and review of the literature”. Pediatr Dermatol 2006; 23: 523-527.

  9. Hadj-Rabia S, Froidevaux D, Bodak N, Hamel-Teilloc D, Smahi A, Touil Y, Fraitag S, de Prost Y, Bodemer C. “Clinical study of 40 cases of incontinentia pigmenti”. Arch Dermatol 2003; 139: 1163-1170.

  10. Kim BJ, Shin HS, Won CH et al. “Incontinentia pigmenti: Clinical observation of 40 Korean cases”. J Korean Med Sci 2006; 21: 474-477.

  11. Domínguez A, Aznar T, Cabrera E. “General and dental characteristics of Bloch-Sulzberger syndrome. Review of literature and presentation of a case report”. Med Oral 2002; 7: 293-297.

  12. Arenas-Sordo ML, Vallejo-Vega B, Hernández-Zamora E, Gálvez-Rosas A, Montoya-Pérez LA. “Incontinentia pigmenti (IP2): Familiar case report with affected men. Literature review”. Med Oral Patol Oral Cir Bucal 2005; 10(supl. 2): E122-E129.

  13. Chan YC, Happle R, Gaim YC. “Whorled scarring alopecia: A rare phenomenon in incontinentia pigmenti?” J Am Acad Dermatol 2003; 49: 929-931.

  14. Pascual-Castroviejo I, Pascual-Pascual SI, Velázquez-Fragua R, Martínez V. “Incontinentia pigmenti: Clinical and neuroimaging findings in a series of 12 patients”. Neurologia 2006; 21: 239-248.

  15. Käsmann-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: 63-69.

  16. Goldberg MF, Custis PH. “Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome)”. Ophtalmology 1993; 100: 1645-1654.

  17. Tnacheri Ouazzani B, Guedira K, Dali H, Laghmari M, Ibrahimy W, Daoudi R, Sefiani A, Chakir M, Jiddane M, Mohcine Z. “Incontinentia pigmenti: A case study”. J Fr Ophtalmol 2007; 30: e24.

  18. Holmström G, Thorén K. “Ocular manifestations of incontinentia pigmenti”. Acta Ophthalmol Scand 2000; 78: 348-353.

  19. Mayer EJ, Shuttleworth GN, Greenhalgh KL. “Novel corneal features in two males with incontinentia pigmenti”. Br J Ophthalmol 2003; 87: 554- 556.

  20. Berlin AL, Paler AS, Chan LS. “Incontinentia pigmenti: A review and update on the molecular basis of pathophysiology”. J Am Acad Dermatol 2002; 47: 169-187.

  21. Fusco F, Bardaro T, Fimiani G, Mercadante V, Miano MG, Falco G, Israël A, Courtois G, D’Urso M, Ursini MV. “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 2004; 13: 1763-1773.

  22. Ormerod AD, White MI, McKay E, Johnston AW. “Incontinentia pigmenti in a boy with Klinefelter’s syndrome”. J Med Genet 1987; 24: 439-441.

  23. Franco LM, Goldstein J, Prose NS, Selim MA, Tirado CA, Coale MM, McDonald MT. “Incontinentia pigmenti in a boy with XXY mosaicism detected by fluorescence in situ hybridization”. J Am Acad Dermatol 2006; 55: 136-138.

  24. Smahi A, Courtois G, Valabres P, Yamaoka S, Heuertz S, Munnich A, Israel A et al. (The International Incontinentia Pigmenti [IP] Consortium). “Genomic rearrangement in NEMO impairs NF-kappa B activation and is a cause of incontinentia pigmenti”. Nature 2000; 405: 466-472.

  25. Smahi A, Courtois G, Rabia SH, Döffinger R, Bodemer C, Munnich A, Casanova JL, Israël A. “The NF-kappaB signalling pathway in human diseases: From incontinentia pigmenti to ectodermal dysplasias and immune- deficiency syndromes”. Hum Mol Genet 2002; 11: 2371-2375.

  26. Courtois G, Smahi A. “NF-kappaB-related genetic diseases”. Cell Death Differ 2006; 13: 843-851.

  27. Nenci A, Huth M, Funteh A, Schmidt-Supprian M, Bloch W, Metzger D, Chambon P, Rajewsky K, Krieg T, Haase I, Pasparakis M. “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 2006; 15: 531-542.

  28. Kaya TI, Tursen U, Ikizoglu G. “Therapeutic use of topical corticosteroids in the vesiculobullous lesions of incontinentia pigmenti”. Clin Exp Dermatol 2008; 34: e611-e613.

  29. Jessup CJ, Morgan SC, Cohen LM, Viders DE. ”Incontinentia pigmenti: Treatment of IP with topical tacrolimus”. J Drugs Dermatol 2009; 8: 944-946.

  30. Nagase T, Takanashi M, Takada H, Ohmori K. “Extensive vesiculobullous eruption following limited ruby laser treatment for incontinentia pigmenti: A case report”. Australas J Dermatol 1997; 38: 155-157.

  31. Rahi J, Hungerford J. “Early diagnosis of the retinopathy of incontinentia pigmenti: Successful treatment by cryotherapy”. Br J Ophthalmol 1990; 74: 377-379.

  32. Wald KJ, Mehta MC, Katsumi O, Sabates NR, Hirose T. “Retinal detachments in incontinentia pigmenti”. Arch Ophthalmol 1993; 111: 614-617.

  33. Lin KL, Hirose T, Kroll AJ, Lou PL, Ryan EA. “Prospects for treatment of pediatric vitreoretinal diseases with vascular endothelial growth factor inhibition”. Semin Ophtalmol 2009; 24: 70-76.




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