Skin, Uterus, and Genes: When Painful Skin Lesions Tell a Familial Syndrome

Ivânia Soares; Inês Pereira-Amaral; Pedro de Vasconcelos; Paulo Filipe

doi:10.20344/amp.24215

Skin, Uterus, and Genes: When Painful Skin Lesions Tell a Familial Syndrome

Authors

Ivânia Soares Dermatology Department. Unidade Local de Saúde Santa Maria. Lisbon.
Inês Pereira-Amaral Dermatology Department. Unidade Local de Saúde Santa Maria. Lisbon.
Pedro de Vasconcelos Dermatology Department. Unidade Local de Saúde Santa Maria. Lisbon. & Department of Dermatovenereology. Faculty of Medicine. University of Lisbon. Lisbon.
Paulo Filipe Dermatology Department. Unidade Local de Saúde Santa Maria. Lisbon. & Department of Dermatovenereology. Faculty of Medicine. University of Lisbon. Lisbon.

DOI:

https://doi.org/10.20344/amp.24215

Keywords:

Leiomyoma/genetics, Leiomyomatosis/diagnosis, Neoplastic Syndromes, Hereditary, Skin Neoplasms/genetics, Uterine Neoplasms/genetics

Abstract

n/a.

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References

Alam NA, Barclay E, Rowan AJ, Tyrer JP, Calonje E, Manek S, et al. Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome linked to fumarate hydratase mutations. Arch Dermatol. 2005;141:199-206. DOI: https://doi.org/10.1001/archderm.141.2.199

Toro JR, Nickerson ML, Wei MH, Warren MB, Glenn GM, Turner ML, et al. Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am J Hum Genet. 2003;73:95-106. DOI: https://doi.org/10.1086/376435

Menko FH, Maher ER, Schmidt LS, Middleton LA, Aittomäki K, Tomlinson I, et al. Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. Fam Cancer. 2014;13:637-44. DOI: https://doi.org/10.1007/s10689-014-9735-2

Linehan WM, Ricketts CJ. The metabolic basis of kidney cancer. Semin Cancer Biol. 2013;23:46-55. DOI: https://doi.org/10.1016/j.semcancer.2012.06.002

Michaeli O, Kim SY, Mitchell SG, Jongmans MC, Wasserman JD, Perrino MR, et al. Update on cancer screening in children with syndromes of bone lesions, hereditary leiomyomatosis and renal cell carcinoma syndrome, and other rare syndromes. Clin Cancer Res. 2025;31:457-65. DOI: https://doi.org/10.1158/1078-0432.CCR-24-2171

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Published

2026-04-01

How to Cite

Soares I, Pereira-Amaral I, de Vasconcelos P, Filipe P. Skin, Uterus, and Genes: When Painful Skin Lesions Tell a Familial Syndrome. Acta Med Port [Internet]. 2026 Apr. 1 [cited 2026 Aug. 18];39(4):321-2. Available from: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/24215

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Issue

Vol. 39 No. 4 (2026): April

Section

Letters to the Editor

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