Incontinentia Pigmenti: A Case Report of a Complex Systemic Disease

Authors

  • Serena Gianfaldoni University G. Marconi of Rome, Dermatology and Venereology, Rome 00192
  • Georgi Tchernev Medical Institute of the Ministry of Interior, Dermatology, Venereology and Dermatologic Surgery; Onkoderma, Private Clinic for Dermatologic Surgery, Dermatology and Surgery, Sofia 1407
  • Uwe Wollina Krankenhaus Dresden-Friedrichstadt, Department of Dermatology and Venereology, Dresden, Sachsen
  • Torello Lotti Universitario di Ruolo, Dipartimento di Scienze Dermatologiche, Università degli Studi di Firenze, Facoltà di Medicina e Chirurgia, Dermatology, Via Vittoria Colonna 11, Rome 00186

DOI:

https://doi.org/10.3889/oamjms.2017.128

Keywords:

Incontinentia Pigmenti, genodermatosis, NEMO, cutaneous manifestations, systemic disease

Abstract

Incontinentia Pigmenti is an uncommon X-linked genodermatosis, caused by mutations in the NEMO gene. It is a systemic disease that involves tissue of ectodermic and mesodermic origin, including cutaneous tissue, teeth, eyes and the central nervous system, amongst other organs. The Authors report a rare case of Incontinentia Pigmenti in a female newborn.

Downloads

Download data is not yet available.

Metrics

Metrics Loading ...

Plum Analytics Artifact Widget Block

References

Woon-Kyong Chung, Deok-Woo Lee, Sung-Eun Chang et Al. A Case of incontinentia pigmenti associated with multiorgan abnormalities. Ann Dermatol. 2009; 21: 56–59. https://doi.org/10.5021/ad.2009.21.1.56 PMid:20548858 PMCid:PMC2883371

Babu NA, Rajesh E, Krupaa J, Gnananandar G. Genodermatoses. J Pharm Bioallied Sci. 2015;7(Suppl 1): S203–S206. PMid:26015711 PMCid:PMC4439671

Hadj-Rabia S, Froidevaux D, Bodak N, Hamel-Teillac D, Smahi A, Touil Y, et al. Clinical study of 40 cases of incontinentia pigmenti. Arch Dermatol. 2003;139:1163–1170. https://doi.org/10.1001/archderm.139.9.1163 PMid:12975158

Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol. 2002;47:169–187. https://doi.org/10.1067/mjd.2002.125949 PMid:12140463

Shastry BS. Recent progress in the genetics of incontinentia pigmenti (Bloch-Sulzberger syndrome). J Hum Genet. 2000;45:323-326. https://doi.org/10.1007/s100380070001 PMid:11185738

Jean-Baptiste S, O'Toole EA, Chen M et Al. Expression of eotaxin, an eosinophil-selective chemokine, parallels eosinophil accumulation in the vesiculobullous stage of incontinentia pigmenti. Clin Exp Immunol. 2002;127:470-478. https://doi.org/10.1046/j.1365-2249.2002.01755.x PMid:11966763 PMCid:PMC1906303

Buinauskiene J, Buinauskaite E, Valiukeviciene S. Incontinentia pigmenti (Bloch- Sulzberger syndrome) in neonates. Medicina (Kaunas). 2005;41:496–499.

Buinauskaite E, Buinauskiene J, Kucinskiene V, Strazdiene D, Valiukeviciene S. Incontinentia pigmenti in a male infant with Klinefelter syndrome: a case report and review of the literature. Pediatr Dermatol. 2010;27:492-495. https://doi.org/10.1111/j.1525-1470.2010.01261.x PMid:20807362

Song JY, Na CH, Chung BS, Choi KC, Shin BS. A case of a surviving male infant with incontinentia pigmenti. Ann Dermatol. 2008;20:134-137. https://doi.org/10.5021/ad.2008.20.3.134 PMid:27303177 PMCid:PMC4903964

Kutkowska-Kaźmierczak A, Obersztyn E, Bonnefont JP, Rosińska-Borkowska D, Mazurczak T, Sobczyńska-Tomaszewska A, Mazurczak T. Variable clinical expression of familial Incontinentia Pigmenti syndrome - presentation of three cases. Med Wieku Rozwoj. 2008;12:748-753. PMid:19305025

Ehrenreich M, Tarlow MM, Godlewska-Janusz E, Schwartz RA. Incontinentia pigmenti (Bloch-Sulzberger syndrome): a systemic disorder. Cutis. 2007;79:355-362. PMid:17569396

Chung WK, Lee DW, Chang SE, Lee MW, Choi JH, Moon KC. A case of incontinentia pigmenti associated with multiorgan abnormalities. Ann Dermatol. 2009;21: 56–59. https://doi.org/10.5021/ad.2009.21.1.56 PMid:20548858 PMCid:PMC2883371

Poziomczyk CS, Recuero JK, Bringhenti L, Maria FD, Campos CW, Travi GM, Freitas AM, Maahs MA, Zen PR, Fiegenbaum M, Almeida ST, Bonamigo RR, Bau AE. Incontinentia pigmenti. An Bras Dermatol. 2014;89:26-36. https://doi.org/10.1590/abd1806-4841.20142584 PMid:24626645 PMCid:PMC3938351

Chun SR, Rashid RM. Delayed onychodystrophy of incontinentia pigmenti: an evidence- based review of epidemiology, diagnosis and management. J Drugs Dermatol. 2010;9:350-354. PMid:20514792

Chan YC, Happle R, Giam YC. Whorled scarring alopecia: a rare phenomenon in incontinentia pigmenti? J Am Acad Dermatol. 2003;49:929-931. https://doi.org/10.1016/S0190-9622(03)00474-2

Santa-Maria FD, Mariath LM, Poziomczyk CS, Maahs MA, Rosa RF, Zen PR, Schüller- Faccini L, Kiszewski AE. Dental anomalies in 14 patients with IP: clinical and radiological analysis and review.Clin Oral Investig. 2016 [Epub ahead]. PMid:27766487

Minić S, Trpinac D, Gabriel H, Gencik M, Obradović M. Dental and oral anomalies in incontinentia pigmenti: a systematic review. Clin Oral Investig. 2013;17:1-8. https://doi.org/10.1007/s00784-012-0721-5 PMid:22453515

Minić S, Obradović M, Kovacević I, Trpinac D. Ocular anomalies in incontinentia pigmenti: literature review and meta-analysis. Srp Arh Celok Lek. 2010;138:408-413. https://doi.org/10.2298/SARH1008408M PMid:20842883

Minić S, Trpinac D, Obradović M. Systematic review of central nervous system anomalies in incontinentia pigmenti. Orphanet J Rare Dis. 2013;8:25. https://doi.org/10.1186/1750-1172-8-25 PMid:23406512 PMCid:PMC3576363

Pörksen G, Pfeiffer C, Hahn G, Poppe M, Friebel D, Kreuz F, Gahr M. Neonatal seizures in two sisters with incontinentia pigmenti. Neuropediatrics. 2004;35:139-142. https://doi.org/10.1055/s-2004-815837 PMid:15127315

Godambe S, McNamara P, Rajguru M, Hellmann J. Unusual neonatal presentation of incontinentia pigmenti with persistent pulmonary hypertension of the newborn: a case report. J Perinatol. 2005;25:289-292. https://doi.org/10.1038/sj.jp.7211250 PMid:15789024

Moreira Neto CA, Moreira AT, Moreira Jr CA. Ophthalmic evaluation, treatment, and follow-up of two cases of incontinentia pigmenti. Arq Bras Oftalmol. 2014;77:47-49. https://doi.org/10.5935/0004-2749.20140012 PMid:25076373

Tomotaki S, Shibasaki J, Yunoki Y, Kishigami M, Imagawa T, Aida N, Toyoshima K, Itani Y. Effectiveness of corticosteroid therapy for acute neurological symptoms in incontinentia pigmenti. Pediatr Neurol. 2016;56:55-58. https://doi.org/10.1016/j.pediatrneurol.2015.12.002 PMid:26777982

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. https://doi.org/10.1111/j.1440-0960.1997.tb01135.x PMid:9293665

Published

2017-07-23

How to Cite

1.
Gianfaldoni S, Tchernev G, Wollina U, Lotti T. Incontinentia Pigmenti: A Case Report of a Complex Systemic Disease. Open Access Maced J Med Sci [Internet]. 2017 Jul. 23 [cited 2024 Mar. 29];5(4):501-5. Available from: https://oamjms.eu/index.php/mjms/article/view/oamjms.2017.128

Most read articles by the same author(s)

<< < 4 5 6 7 8 9 10 11 12 13 > >>