Dermatology clinical case

Authors

  • Cátia Vilas Boas Leitão Department of Pediatrics, Unidade II, Centro Hospitalar de Vila Nova de Gaia/Espinho
  • Isabel Ayres Pereira Department of Pediatrics, Unidade II, Centro Hospitalar de Vila Nova de Gaia/Espinho
  • Joana Tenente Department of Pediatrics, Unidade II, Centro Hospitalar de Vila Nova de Gaia/Espinho
  • Marta Vila Real Child and Adolescent Neuroscience Unit, Pediatrics Department, Unidade II, Centro Hospitalar de Vila Nova de Gaia/Espinho
  • Ana Oliveira Dermatology Department, Unidade I, Centro Hospitalar de Vila Nova de Gaia/Espinho
  • Ana Luísa Leite Endocrinology and Nutrition Unit, Pediatrics Department, Unidade II, Centro Hospitalar Vila Nova de Gaia/Espinho

DOI:

https://doi.org/10.25753/BirthGrowthMJ.v30.i1.18674

Keywords:

Blaschko lines, genodermatoses, incontinentia pigmenti, rare disease

Abstract

ncontinentia pigmenti is an X-linked neuroectodermal dysplasia. It is a rare genetic disease with multiorgan involvement, and hence a multidisciplinary approach is of paramount importance. Although diagnosis is based on clinical findings, genetic molecular testing can be performed to confirm diagnosis and allow future genetic counselling.

The authors describe the case of a 4-month-old girl accidentally diagnosed with incontinentia pigmenti following routine physical examination in the Emergency Department. Timely diagnosis enabled appropriate multidisciplinary approach and follow-up.

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Author Biography

Marta Vila Real, Child and Adolescent Neuroscience Unit, Pediatrics Department, Unidade II, Centro Hospitalar de Vila Nova de Gaia/Espinho

Unidade de Neurociências da Infância e Adolescência, Serviço de Pediatria, Unidade 2.

Centro Hospitalar de Vila Nova de Gaia/Espinho.

4400-129 Vila Nova de Gaia, Portugal.

References

Garrod AE. Peculiar pigmentation of the skin of an infant. Transactions of the Clinical Society of London. 1906;39:216.

Swinney CC, Han DP, Karth PA. Incontinentia Pigmenti: a comprehensive review and uptodate. Ophtalmic Surgery, Lasers & Imaging Retina 2015; 46:650-7.

Roethke CG. Incontinentia pigmenti: a summary review of this rare ectodermal dysplasia with neurologic manifestations, including treatment protocols. Journal of Pediatric Health Care 2017: 31:45-52.

Fusco F, Pesctores A, Steffann J, Royer G, Bonnefont JP, Ursini MV. Clinicial utility gene card for: incontinentia pigmenti. European Jouranl of Human Genetics. 2013; 21. https://doi.org/10.1038/ejhg.2012.227.

Jaramillo SO, Boz J, Casano AV. Incontinentia pigmenti. Estúdio descriptivo de la experinecia en dos centros hospitalarios. An Pediatr (Barc.) 2019. https://doi.org/10.1016/j.anpedi.2019.04.004.

Pereira M, Budel AR, Feltrim AS, Mesquita LA,. Cabral CS Jaramillo SO, Boz J. Incontinência pigmentar ligada ao X ou síndrome Bloch-Sulzberger: relato de um caso. An Bras Dermatol 2010; 85:372-5.

Minic S, Trpinac D, Obradovic M. Incontinentia pigmenti diagnostic criteria update. Clin Genet. 2014; 85:536-42.

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Published

2021-04-06

How to Cite

1.
Leitão CVB, Pereira IA, Tenente J, Real MV, Oliveira A, Leite AL. Dermatology clinical case. REVNEC [Internet]. 2021Apr.6 [cited 2024Apr.16];30(1):61-3. Available from: https://revistas.rcaap.pt/nascercrescer/article/view/18674

Issue

Vol. 30 No. 1 (2021)

Section

Imaging Cases

License

Copyright (c) 2021 Cátia Vilas Boas Leitão, Isabel Ayres Pereira, Joana Tenente, Marta Vila Real, Ana Oliveira, Ana Luísa Leite

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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

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