Skip to main content

CASE REPORT article

Front. Med.
Sec. Dermatology
Volume 11 - 2024 | doi: 10.3389/fmed.2024.1402577
This article is part of the Research Topic Current Concepts in Epidemiology, Diagnosis, Associated Co-Morbidities, and Therapeutics of Non-Melanoma Skin Cancers: Beyond Basal Cell and Squamous Cell Carcinomas View all 9 articles

Case report: variability in clinical manifestations within a familial case of incontinentia pigmenti

Provisionally accepted
Tatiana Nasedkina Tatiana Nasedkina 1*Tatiana Belysheva Tatiana Belysheva 2Irina Kletskaya Irina Kletskaya 3Dana Volchek Dana Volchek 4,5Irina Barinova Irina Barinova 1Vera Semenova Vera Semenova 1,2Aida Gadzhigoroeva Aida Gadzhigoroeva 6Ekaterina Zelenova Ekaterina Zelenova 1,2Timur Valiev Timur Valiev 2,4Elena Sharapova Elena Sharapova 2Anna Michenko Anna Michenko 7,8,9Anastasia Allenova Anastasia Allenova 4Darya Ponomareva Darya Ponomareva 7
  • 1 Engelhardt Institute of Molecular Biology (RAS), Moscow, Russia
  • 2 N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia, Moscow, Moscow Oblast, Russia
  • 3 Russian Children's Clinical Hospital of Pirogov Russian National Research Medical University, Ministry of Health of Russia, Moscow, Moscow Oblast, Russia
  • 4 I.M. Sechenov First Moscow State Medical University, Moscow, Moscow Oblast, Russia
  • 5 Central Research Institute of Dentistry and Maxillofacial Surgery, Moscow, Russia
  • 6 Moscow Scientific and Practical Center for Dermatovenerology and Cosmetology, Moscow, Moscow Oblast, Russia
  • 7 Central State Medical Academy, Moscow, Moscow Oblast, Russia
  • 8 Medical Scientific and Educational Center of Lomonosov Moscow State University, Moscow, Russia
  • 9 International Institute of Psychosomatic Health, Moscow, Russia

The final, formatted version of the article will be published soon.

    Diagnosing skin diseases in children can be a complex interdisciplinary problem. Incontinentia pigmenti (IP), also known as Bloch-Sulzberger syndrome, is a rare hereditary genodermatosis related to a mutation in the IKBKG gene. We present a family case of IP described from the perspective of various specialists, including dermatologists, oncologists, geneticists, dentists, and trichologists. The peculiarity of this case is the development of squamous cell carcinoma (SCC) on the shin of a 10year-old female patient with IP. The patient had a positive family history: her mother and two sisters also displayed clinical manifestations of IP with involvement of skin, teeth and hair. The presence of exons 4-10 deletion in the IKBKG gene in all affected females was confirmed by detailed genetic evaluation using long-range PCR, and also high degree of X-chromosome inactivation skewing was demonstrated. The family underwent a comprehensive examination and was followed up for 2 years with successful symptomatic treatment of dermatologic manifestations. Recommendations were also made regarding dental and hair problems. By the end of the follow-up period, patients had stabilized, with the exception of a 36-year-old mother who developed generalized morphea. The study demonstrates the varying expressiveness of clinical symptoms among family members and emphasizes the importance of timely diagnosis for effective management of patients with IP.

    Keywords: Incontinentia Pigmenti, Squamous cell carcinoma, Dental abnormalities, Hair, IKBKG/NEMO deletion, X-chromosome inactivation, family case report

    Received: 17 Mar 2024; Accepted: 28 Jun 2024.

    Copyright: © 2024 Nasedkina, Belysheva, Kletskaya, Volchek, Barinova, Semenova, Gadzhigoroeva, Zelenova, Valiev, Sharapova, Michenko, Allenova and Ponomareva. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Tatiana Nasedkina, Engelhardt Institute of Molecular Biology (RAS), Moscow, Russia

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.