Expanding phenotypic insights of palmoplantar keratodermas based on novel FAM83G variants

Marike W van Gisbergen; S Vanya J Rossel; Tom E J Theunissen; Renske Janssen; Tariraishe Kaseke; Jasper J van der Smagt; Peter M Steijlen; Maaike Vreeburg; Antoni H Gostynski; Michel van Geel

doi:10.1093/bjd/ljae419

Expanding phenotypic insights of palmoplantar keratodermas based on novel FAM83G variants

Marike W van Gisbergen, S Vanya J Rossel, Tom E J Theunissen, Renske Janssen, Tariraishe Kaseke, Jasper J van der Smagt, Peter M Steijlen, Maaike Vreeburg, Antoni H Gostynski, Michel van Geel^*

^*Corresponding author for this work

Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

Abstract

We report two unrelated patients with new pathogenic variants in the FAM83G gene, supporting the causal link to previously identified families with recessive hereditary palmoplantar keratoderma. Although structural changes of the hairs are a key feature of FAM83G-associated disease, a complete loss of the gene, seen in one of the patients, shows normal hair and does not support this part of the clinical phenotype.

Original language	English
Pages (from-to)	544-546
Number of pages	3
Journal	British Journal of Dermatology
Volume	192
Issue number	3
Early online date	25 Oct 2024
DOIs	https://doi.org/10.1093/bjd/ljae419
Publication status	Published - 1 Mar 2025

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10.1093/bjd/ljae419Licence: CC BY

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title = "Expanding phenotypic insights of palmoplantar keratodermas based on novel FAM83G variants",

abstract = "We report two unrelated patients with new pathogenic variants in the FAM83G gene, supporting the causal link to previously identified families with recessive hereditary palmoplantar keratoderma. Although structural changes of the hairs are a key feature of FAM83G-associated disease, a complete loss of the gene, seen in one of the patients, shows normal hair and does not support this part of the clinical phenotype.",

author = "\{van Gisbergen\}, \{Marike W\} and Rossel, \{S Vanya J\} and Theunissen, \{Tom E J\} and Renske Janssen and Tariraishe Kaseke and \{van der Smagt\}, \{Jasper J\} and Steijlen, \{Peter M\} and Maaike Vreeburg and Gostynski, \{Antoni H\} and \{van Geel\}, Michel",

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doi = "10.1093/bjd/ljae419",

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T1 - Expanding phenotypic insights of palmoplantar keratodermas based on novel FAM83G variants

AU - van Gisbergen, Marike W

AU - Rossel, S Vanya J

AU - Theunissen, Tom E J

AU - Janssen, Renske

AU - Kaseke, Tariraishe

AU - van der Smagt, Jasper J

AU - Steijlen, Peter M

AU - Vreeburg, Maaike

AU - Gostynski, Antoni H

AU - van Geel, Michel

PY - 2025/3/1

Y1 - 2025/3/1

N2 - We report two unrelated patients with new pathogenic variants in the FAM83G gene, supporting the causal link to previously identified families with recessive hereditary palmoplantar keratoderma. Although structural changes of the hairs are a key feature of FAM83G-associated disease, a complete loss of the gene, seen in one of the patients, shows normal hair and does not support this part of the clinical phenotype.

AB - We report two unrelated patients with new pathogenic variants in the FAM83G gene, supporting the causal link to previously identified families with recessive hereditary palmoplantar keratoderma. Although structural changes of the hairs are a key feature of FAM83G-associated disease, a complete loss of the gene, seen in one of the patients, shows normal hair and does not support this part of the clinical phenotype.

U2 - 10.1093/bjd/ljae419

DO - 10.1093/bjd/ljae419

M3 - Comment/Letter to the editor

SN - 0007-0963

VL - 192

SP - 544

EP - 546

JO - British Journal of Dermatology

JF - British Journal of Dermatology

IS - 3

ER -

Expanding phenotypic insights of palmoplantar keratodermas based on novel FAM83G variants

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