Case report: Variability in clinical manifestations within a family with incontinentia pigmenti.

IKBKG/NEMO deletion X-chromosome inactivation dental abnormalities family case report hair incontinentia pigmenti squamous cell carcinoma

Journal

Frontiers in medicine
ISSN: 2296-858X
Titre abrégé: Front Med (Lausanne)
Pays: Switzerland
ID NLM: 101648047

Informations de publication

Date de publication:
2024
Historique:
received: 17 03 2024
accepted: 28 06 2024
medline: 1 8 2024
pubmed: 1 8 2024
entrez: 1 8 2024
Statut: epublish

Résumé

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

Identifiants

DOI: 10.3389/fmed.2024.1402577 PMID: 39086952 PMC: PMC11288940
pubmed: 39086952
doi: 10.3389/fmed.2024.1402577
pmc: PMC11288940
doi:

Types de publication

Case Reports Journal Article

Langues

eng

Pagination

1402577

Informations de copyright

Copyright © 2024 Belysheva, Nasedkina, Kletskaya, Volchek, Barinova, Semenova, Gadzhigoroeva, Zelenova, Valiev, Sharapova, Michenko, Allenova and Ponomareva.

Déclaration de conflit d'intérêts

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Auteurs

Tatiana Belysheva (T)

N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia, Moscow, Russia.

Tatiana Nasedkina (T)

Engelhardt Institute of Molecular Biology of the Russian Academy of Sciences, Moscow, Russia.

Irina Kletskaya (I)

Russian Children's Clinical Hospital of Pirogov Russian National Research Medical University, Ministry of Health of Russia, Moscow, Russia.

Dana Volchek (D)

I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia.
Central Research Institute of Dentistry and Maxillofacial Surgery, Moscow, Russia.

Irina Barinova (I)

Engelhardt Institute of Molecular Biology of the Russian Academy of Sciences, Moscow, Russia.

Vera Semenova (V)

N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia, Moscow, Russia.
Engelhardt Institute of Molecular Biology of the Russian Academy of Sciences, Moscow, Russia.

Aida Gadzhigoroeva (A)

Moscow Scientific and Practical Center of Dermatovenereology and Cosmetology, Moscow, Russia.

Ekaterina Zelenova (E)

N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia, Moscow, Russia.
Engelhardt Institute of Molecular Biology of the Russian Academy of Sciences, Moscow, Russia.

Timur Valiev (T)

N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia, Moscow, Russia.
I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia.

Elena Sharapova (E)

N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia, Moscow, Russia.

Anna Michenko (A)

Federal State Budgetary Institution "Central State Medical Academy" of the Administrative Department of the President of the Russian Federation, Moscow, Russia.
Medical Scientific and Educational Center of Lomonosov Moscow State University, Moscow, Russia.
International Institute of Psychosomatic Health, Moscow, Russia.

Anastasiia Allenova (A)

I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia.

Darya Ponomareva (D)

The branch of Hadassah Medical LTD, Moscow, Russia.

Classifications MeSH