Incontinentia pigmenti. A case report

Authors

Keywords:

pigmentary incontinence, Bloch-Sulzberger syndrome, X chromosome-linked genodermatosis

Abstract

Pigmentary incontinence, also known as Bloch-Sulzberger syndrome, is a rare X chromosome-linked genodermatosis, located in Xq28. It affects the female sex and has different clinical manifestations in the same family. Ii is a multi-systemic disease characterized by affecting, in a variable way, the tissues derived from the neuroectoderm, the skin, the eyes, the teeth and the central nervous system. Skin lesions are the most significant ones since birth time, and skin biopsy confirms the diagnosis. Due to the rareness of this entity, we presented the case of a nursing female infant aged one month, with a family history of pigmentary incontinence, who presented typical lesions in the skin, since his first week of life, in different phases, following the lines of Blaschko. Ocular manifestations and eosinophilia were confirmed.

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References

1. Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet. 1993; 30: 53-9. Citado en PubMed; PMID: 8423608.

2. Enei ML, Orellana I, Vargas X, et al. Incotinencia pigmenti en madre e hija. Relato de caso clínico. Rev Chil Pediatr [Internet]. 2011 [citado 12/05/2020]; 82(3): 225-30. Disponible en: https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0370-41062011000300008

3. Cammarata Scalisi F, Fusco F, Ursirie MV. Incontinencia Pigmenti. Actas Dermosifiliogr [Internet]. 2019 [citado 12/05/2020]; 110(4): 273-8. Disponible en: https://www.actasdermo.org/es-incontinencia-pigmenti-articulo-S0001731018304903

4. Vázquez Gómez F, Díaz Ruiz L, Bergón Sendín E, et al. Terapia láser en afectación ocular tras diagnóstico de Incontinencia Pigmenti en una niña. Arch Argent Pediatric [Internet]. 2019 [citado 12/05/2020]; 117(3): 252-6. Disponible en: https://www.sap.org.ar/docs/publicaciones/archivosarg/2019/v117n3a19.pdf

5. García Rodríguez Y, Castillo Maspons G. Incontinencia pigmenti en un recién nacido. Presentación de un caso. Medisur [Internet]. 2015 [citado 12/05/2020]; 13(4): 555-9. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1727-897X2015000400013

6. Esquivel Pinto IA, Toussaint Caire S, Vega Memije ME. Incontinencia Pigmentaria. Dermatología CMQ [Internet]. 2017 [citado 12/05/2020]; 15(2): 16-138. Disponible en: https://www.medigraphic.com/cgi-bin/new/resumen.cgi?IDARTICULO=73450

7. García García A, Hernández García I, De León Ojeda N, et al. Revisión clínica de 28 casos de incontinencia pigmentaria. Rev Cubana Pediatr [Internet]. 2010 [citado 03/01/2017]; 82(3). Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0034-75312010000300003&lng=es

8. Gálvez-Marticorena B, Chambi-Torres J. Incontinentia pigmenti en Cajamarca: Reporte de un caso en lactante. Horiz Méd [Internet]. 2015 [citado 03/01/2017]; 15(3): 57-60. Disponible en: http://www.scielo.org.pe/scielo.php?script=sci_arttext&pid=S1727-558X2015000300010

9. Rosser T. Neurocutaneous disorder. Continuum [Internet]. 2018 [citado 03/01/2017]; 24(1): 96-129. Disponible en: https://journals.lww.com/continuum/fulltext/2018/02000/neurocutaneous_disorders.8.aspx

10. Matsuzaki Y, Rokunohe A, Minakawa S, et al. Incontinentia Pigmenti in a male (XY) infant with long-term follow up over 8 years. J Dermatol. 2018; 45(1): 100-3. Citado en PubMed; PMID: 28791733.

11. Swinney CC, Han DP, Karth PA. “Incontinentia pigmenti: a comprehensive review and update”. Ophthalmic Surg Lasers Imaging Retina. 2015 [citado 03/01/2017]; 46(6): 650-7. Citado en PubMed; PMID: 26114846.

12. Batson Ryan BS, Keeling BH, Díaz LZ. Incontinentia Pigmenti. The Journal of Pediatrics [Internet]. 2016 [citado 03/01/2017]; 176: 218. Disponible en: https://www.sciencedirect.com/science/article/abs/pii/S0022347616303559?via%3Dihub

13. Dinesh Kumar Narayana S, Arunagirinathan A, Krishnakumar R, et al. Incontinentia pigmenti: a rare genodermatosis in a male child. J Clin Diagn Res. 2015 Feb; 9(2): SD06–SD08. Citado en PubMed; PMID: 25859498.

14. Castro Rodríguez Y, César Quiroz J, Julcamoro Grados E. Manifestaciones orales de la Incontinencia Pigmentaria (Síndrome de Bloch-Suzberger). Reporte de caso. Odontoestomatología [Internet]. 2019 [citado 12/05/2020]; 21(34): 34-7. Disponible en: http://www.scielo.edu.uy/scielo.php?script=sci_arttext&pid=S1688-93392019000200056

15. Greene Roethke C. Incontinentia pigmenti: A summary review of this rare ectodermal dysplasia with neurologic manifestation, including treatment protocols. J Pediatr Health Care. 2017; 31(6): e45-52. Citado en PubMed; PMID: 28870493.

16. Barros B, Helm K, Zaenglein A, et al. Keratoacanthoma-like growths of Incontinentia Pigmenti successfully treated with intralesional Methrotexate. Pediatric Dermatology. 2017; 34(4): e203-e4. Citado en PubMed; PMID: 28414858.

17. Wolf DS, Golden WC, Hoover-Fong J, et al. High-dose glucocorticoid therapy in the management of seizures in neonatal incontinentia pigmenti: a case report. J Child Neurol. 2015; 30(1): 100-6. Citado en PubMed; PMID: 24682289.

18. Portuondo Barbarrosa E, Acuña Guilarte PA, González Bécquer AG, et al. Incontinencia pigmenti y manifestación neurológica. Presentación de un caso. Rev Cubana Pediat [Internet]. 2018 [citado 03/01/2017]; 90(2): 321-9. Disponible en: http://revpediatria.sld.cu/index.php/ped/article/view/281/199

19. Rafatjoo R, Taghdisi Kashani A. Incontinentia Pigmenti; a Rare Multisystem Disorder: Case Report of a 10-Year-Old Girl. J Dent (Shiraz). 2016; 17(3): 233-7. Citado en PubMed; PMID: 27602400.

20. Aldana Raudalec AM, Corea DM, Caballero Castro HR. Incontinencia Pigmenti. Presentación de un caso. Acta Pediat Hondu [Internet]. 2017 [citado 03/01/2017]; 8(1): 725-30. Disponible en: https://pesquisa.bvsalud.org/portal/resource/pt/biblio-987183?src=similardocs

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Published

2021-07-01

How to Cite

1.
Sabido Toledo L, Martínez García G, Luna Ceballos EJ. Incontinentia pigmenti. A case report. Rev Méd Electrón [Internet]. 2021 Jul. 1 [cited 2025 Jan. 23];43(4):1-9. Available from: https://revmedicaelectronica.sld.cu/index.php/rme/article/view/3973

Issue

Vol. 43 No. 4 (2021): Número del Centenario.

Section

Presentation of cases

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