Dermatologic findings in individuals with Turner syndrome: a cross-sectional study across the lifespan
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To the Editor: Turner syndrome (TS) is a common sex-chromosome–associated condition defined by complete or partial loss of 1 X chromosome.1 Lymphedema, nail dysplasia, increased pigmented and halo nevi, and keloids have been previously reported in association with TS1; however, their frequencies have not been well defined. We sought to investigate cutaneous features associated with TS to better understand their prevalence and uncover possible karyotype-phenotype correlations.
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Peripheral lymphedema is thought to contribute to development of nail anomalies such as deeply set, narrow, and hyperconvex nails, affecting 19%-73% of individuals with TS.
“Meanwhile, peripheral lymphedema is thought to contribute to development of nail anomalies such as deeply set, narrow, and hyperconvex nails, affecting 19%-73% of individuals with TS.673,680,681”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [673]
Lymphedema is reported more often in association with a 45,X karyotype compared to other karyotypes.
“Lymphedema is reported more often in association with a 45,X karyotype compared to other karyotypes.673,676”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [673]
Clinically apparent lymphedema occurs in 12%-27% of girls and women with TS.
“Clinically apparent lymphedema occurs in 12%-27% of girls and women with TS.16,88,673”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [673]
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Cites
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Reduced Sebum Production in Turner Syndrome: A Study of Twenty-Two Patients
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Clinical practice guidelines for the care of girls and women with Turner syndrome.
Gravholt, C. H., Andersen, N. H., Christin-Maitre, S., Davis, S. M., Duijnhouwer, A., Gawlik, A., Maciel-Guerra, A. T., Gutmark-Little, I., Fleischer, K., Hong, D., et al. (2024) · European Journal of Endocrinology · doi:10.1093/ejendo/lvae050 · Cited by 224 · see citing works
Global prevalence of autoimmune diseases in turner syndrome: a systematic review and meta-analysis
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Dermatological concerns for women and girls with turner syndrome
Rodriguez‐Buritica, D., Mones, M., Prakash, S. K., Rivera, M., Aldrich, M. B., Rogge, M. N., & Richardson, K. M. (2023) · Frontiers in Medicine · doi:10.3389/fmed.2023.1235187 · Cited by 6 · see citing works
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Dermatologic care of patients with differences of sex development
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Cutaneous manifestations in Turner syndrome: a systematic review and meta-analysis
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Pilomatrixomas: syndromic associations and a guide to germline genetic testing
Yesudian, R. I., Christopher, J., Armstrong, R., Burrows, N., & Holden, S. T. (2026) · Skin Health and Disease · doi:10.1093/skinhd/vzag133
- Authors
- Said, J. T., Pithadia, D. J., Snyder, E., Elsharkawi, I., Lin, A., & Lilly, E.
- Affiliations
- Harvard University (US)
- Massachusetts General Hospital (US)
- Corresponding author
- Lilly, Evelyn
- Venue
- Journal of the American Academy of Dermatology
- Publisher
- Elsevier BV
- Published
- 2022-08
- Volume
- 87
- Issue
- 2
- Pages
- 476-479
- ISSN
- 0190-9622 (ISSN-L)
- OpenAlex
- W3205629581
- Cited by
- 8
- References
- 5
- Citations by year
- 2026: 3 · 2025: 1 · 2024: 2 · 2023: 2
- FWCI
- 0.57
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Journal of the American Academy of Dermatology (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Keywords
- Turner syndrome, cutaneous manifestations, lymphedema, nail dysplasia, halo nevi, pigmented nevi, keloids, karyotype-phenotype correlation, X chromosome loss, prevalence
- MeSH terms
- Cross-Sectional Studies, Humans, Longevity, Turner Syndrome
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