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Fonova E.A.

Research Institute of Medical Genetics — Tomsk National Research Medical Center;
Siberian State Medical University

Zhalsanova I.Zh.

Research Institute of Medical Genetics — Tomsk National Research Medical Center of the Russian Academy of Sciences;
Research Institute of Oncology — Tomsk National Research Medical Center of the Russian Academy of Sciences

Nikitina A.A.

Research Institute of Medical Genetics — Tomsk National Research Medical Center of the Russian Academy of Sciences

Erburova D.N.

Research Institute of Medical Genetics — Tomsk National Research Medical Center of the Russian Academy of Sciences

Gosudarkina S.N.

Research Institute of Medical Genetics — Tomsk National Research Medical Center of the Russian Academy of Sciences

Zarubin A.A.

Research Institute of Medical Genetics — Tomsk National Research Medical Center

Seitova G.N.

Research Institute of Medical Genetics — Tomsk National Research Medical Center

Chekanov N.N.

Biotechnology campus LLC

Stepanov V.A.

Research Institute of Medical Genetics — Tomsk National Research Medical Center of the Russian Academy of Sciences

Skryabin N.A.

Research Institute of Medical Genetics — Tomsk National Research Medical Center of the Russian Academy of Sciences;
Research Institute of Oncology — Tomsk National Research Medical Center of the Russian Academy of Sciences

A familial case of Bothnian palmoplantar keratoderma caused by the c.103T>G substitution in the AQP5 gene

Authors:

Fonova E.A., Zhalsanova I.Zh., Nikitina A.A., Erburova D.N., Gosudarkina S.N., Zarubin A.A., Seitova G.N., Chekanov N.N., Stepanov V.A., Skryabin N.A.

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Journal: Russian Journal of Clinical Dermatology and Venereology. 2025;24(6): 765‑768

DOI: 10.17116/klinderma202524061765

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Table of contents

A FAMILIAL CASE OF BOTHNIAN PALMOPLANTAR KERATODERMA CAUSED BY THE C.103T>G SUBSTITUTION IN THE AQP5 GENE
A FAMILIAL CASE OF BOTHNIAN PALMOPLANTAR KERATODERMA CAUSED BY THE C.103T>G SUBSTITUTION IN THE AQP5 GENE

To cite this article:

Fonova EA, Zhalsanova IZh, Nikitina AA, et al. A familial case of Bothnian palmoplantar keratoderma caused by the c.103T>G substitution in the AQP5 gene. Russian Journal of Clinical Dermatology and Venereology. 2025;24(6):765‑768. (In Russ.)
https://doi.org/10.17116/klinderma202524061765

Подписка 2026 Клиническая дерматология и венерология (Russian Journal of Clinical Dermatology and Venereology)
МСФ на ЯМ
Использование инфографики авторами научных работ
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Descriptive epidemiological study of the morbidity with here­ditary non-syndromic diso­rders of kera­tinization among the popu­lation of Moscow. Russian Journal of Clinical Dermatology and Vene­reology. 2025;(6):750-759
Abstract:

Palmoplantar keratoderma is a clinically polymorphic disease with heterogenous etiology characterized by pronounced hyperkeratotic changes on the surface of the palms and soles. Hereditary forms of palmoplantar keratoderma are predominantly described by various variants in genes belonging to keratin family with autosomal dominant inheritance. A familial case of palmoplantar keratoderma is described. The analysis of family tree suggested autosomal dominant inheritance. Clinical manifestations included hyperkeratosis, xeroderma especially on the skin of the palms and feet: skin thickening with peeling and cracks, smoothed skin pattern. A previously undescribed and probably pathogenic c.103T>G variant of the AQP5 gene in heterozygous state in the proband, her mother and maternal grandfather was revealed as a result of whole genome sequencing. The presented clinical case is of interest for dermatologists due to the occasional incidence of palmoplantar keratoderma caused by variants in the AQP5 gene in clinical practice. Thus, the following diagnosis was established depending on the anamnestic data, clinical picture and examination results in the family: Bothnian palmoplantar keratoderma caused by a probably pathogenic variant in the AQP5 gene.

Keywords:

palmoplantar keratoderma
genome sequencing
AQP5

Authors:

Fonova E.A.

Research Institute of Medical Genetics — Tomsk National Research Medical Center;
Siberian State Medical University

Zhalsanova I.Zh.

Research Institute of Medical Genetics — Tomsk National Research Medical Center of the Russian Academy of Sciences;
Research Institute of Oncology — Tomsk National Research Medical Center of the Russian Academy of Sciences

Nikitina A.A.

Research Institute of Medical Genetics — Tomsk National Research Medical Center of the Russian Academy of Sciences

Erburova D.N.

Research Institute of Medical Genetics — Tomsk National Research Medical Center of the Russian Academy of Sciences

Gosudarkina S.N.

Research Institute of Medical Genetics — Tomsk National Research Medical Center of the Russian Academy of Sciences

Zarubin A.A.

Research Institute of Medical Genetics — Tomsk National Research Medical Center

Seitova G.N.

Research Institute of Medical Genetics — Tomsk National Research Medical Center

Chekanov N.N.

Biotechnology campus LLC

Stepanov V.A.

Research Institute of Medical Genetics — Tomsk National Research Medical Center of the Russian Academy of Sciences

Skryabin N.A.

Research Institute of Medical Genetics — Tomsk National Research Medical Center of the Russian Academy of Sciences;
Research Institute of Oncology — Tomsk National Research Medical Center of the Russian Academy of Sciences

Received:

28.04.2025

Accepted:

02.11.2025

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References:

  1. Guerra L, Castori M, Didona B, Castiglia D, Zambruno G. Hereditary palmoplantar keratodermas. Part I. Nonsyndromic palmoplantar keratodermas: classification, clinical and genetic features. Journal of the European Academy of Dermatology and Venereology. 2018;32:704-719.  https://doi.org/10.1111/jdv.14902
  2. Dev T, Mahajan VK, Sethuraman G. Hereditary Palmoplantar Keratoderma: A Practical Approach to the Diagnosis. Indian Derm Online J. 2019; 10:365-379.  https://doi.org/10.4103/idoj.IDOJ_367_18
  3. Blaydon DC, Lind LK, Plagnol V, Linton KJ, Smith FJD, Wilson NJ, McLean WHI, Munro CS, South AP, Leigh IM, O’Toole EA, Lundström A, Kelsell DP. Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. Am J Hum Genet. 2013;93:330-335.  https://doi.org/10.1016/j.ajhg.2013.06.008
  4. Wada Y, Kusakabe M, Nagai M, Imai Y, Yamanishi K. Japanese case of Bothnian-type palmoplantar keratoderma with a novel missense mutation of p.Trp35Ser in extracellular loop A of aquaporin-5. J Dermatol. 2019;46: e104-e106. https://doi.org/10.1111/1346-8138.14621
  5. Pan Y, Men Y, Lin Z. Palmoplantar keratoderma Bothnia type with acrokeratoelastoidosis-like features due to AQP5 mutations. Clin Exp Dermatol. 2019;44:88-91.  https://doi.org/10.1111/ced.13747
  6. Baza dannykh populyatsionnykh chastot geneticheskikh variantov naseleniya Rossijskoj Federatsii. FMBA Rossii. Versiya prilozheniya 1.0.4 ot 19.12.2024. Versiya bazy 59.1 ot 03.10.2024. Accessed April 06, 2025. (In Russ.). https://gdbpop.nir.cspfmba.ru
  7. Shchagina O, Fedotov V, Markova T, Shatokhina O, Ryzhkova O, Fedotova T, Polyakov A. Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases. Int J Mol Sci. 2022 Aug 24;23(17):9576. https://doi.org/10.3390/ijms23179576
  8. Lind L, Lundström A, Hofer PA, Holmgren G. The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13. Hum Mol Genet. 1994;3:1789-1793. https://doi.org/10.1093/hmg/3.10.1789
  9. Kelsell DP, Stevens HP, Ratnavel R, Bryant SP, Bishop DT, Leigh IM, Spurr NK. Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity. Hum Mol Genet. 1995;4:1021-1025. https://doi.org/10.1093/hmg/4.6.1021
  10. Abdul-Wahab A, Takeichi T, Liu L, Lomas D, Hughes B, Akiyama M, et al. Autosomal dominant diffuse non-epidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5. Br J Dermatol. 2016;174:430-432.  https://doi.org/10.1111/bjd.13931
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