Introduction: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is caused by germline heterozygous mutations of the fumarate hydratase (FH) gene. Materials and Methods: A retrospective observational study was conducted, aimed at characterizing the clinical features, histopathology, and genetic mutations in eighteen patients with confirmed HLRCC diagnosis. Results: FH gene mutations were identified in the seven families studied, including a previously undescribed mutation. All index cases of the families included were suspected on skin manifestations. Thirteen of the 18 patients (72%) presented cutaneous leiomyomas. The chief complaint was pain, with complete but transient response to botulinum toxin in one. No evidence of malignant transformation was observed. Uterine leiomyomas were present in seven of the eight women studied (88%). There was no evidence of renal cell carcinoma in any of the patients in the study. The most frequently found mutations were missense type (43%), followed by large rearrangements (24%), intronic deletions (14%) and nonsense (14%). A novel mutation not previously described in the literature is presented. Conclusions: HLRCC is a rare disease but it is also probably underdiagnosed. Dermatologists have an essential role in its diagnosis, by recognizing the clinical characteristics of the syndrome and investigating the family history.
| Published in | International Journal of Clinical Dermatology (Volume 4, Issue 2) |
| DOI | 10.11648/j.ijcd.20210402.12 |
| Page(s) | 16-22 |
| Creative Commons |
This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited. |
| Copyright |
Copyright © The Author(s), 2024. Published by Science Publishing Group |
Piloleiomyoma, Genodermatosis, Reed Syndrome, Adnexal Tumor
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APA Style
Susana Medina-Montalvo, Ana Rodríguez-Villa Lario, José María Mesa-Latorre, Ana Vidal-Conde, Alba Gómez-Zubiaur, et al. (2021). Reed Syndrome in Eighteen Patients: A Genodermatosis Where Piloleiomyomas May Be the Diagnostic Clue. International Journal of Clinical Dermatology, 4(2), 16-22. https://doi.org/10.11648/j.ijcd.20210402.12
ACS Style
Susana Medina-Montalvo; Ana Rodríguez-Villa Lario; José María Mesa-Latorre; Ana Vidal-Conde; Alba Gómez-Zubiaur, et al. Reed Syndrome in Eighteen Patients: A Genodermatosis Where Piloleiomyomas May Be the Diagnostic Clue. Int. J. Clin. Dermatol. 2021, 4(2), 16-22. doi: 10.11648/j.ijcd.20210402.12
AMA Style
Susana Medina-Montalvo, Ana Rodríguez-Villa Lario, José María Mesa-Latorre, Ana Vidal-Conde, Alba Gómez-Zubiaur, et al. Reed Syndrome in Eighteen Patients: A Genodermatosis Where Piloleiomyomas May Be the Diagnostic Clue. Int J Clin Dermatol. 2021;4(2):16-22. doi: 10.11648/j.ijcd.20210402.12
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author = {Susana Medina-Montalvo and Ana Rodríguez-Villa Lario and José María Mesa-Latorre and Ana Vidal-Conde and Alba Gómez-Zubiaur and Isabel Polo-Rodríguez and Ana Belén Piteriro-Bermejo and Dolores Vélez-Velázquez and Juan de Dios Garcia and Lidia Trasobares-Marugán},
title = {Reed Syndrome in Eighteen Patients: A Genodermatosis Where Piloleiomyomas May Be the Diagnostic Clue},
journal = {International Journal of Clinical Dermatology},
volume = {4},
number = {2},
pages = {16-22},
doi = {10.11648/j.ijcd.20210402.12},
url = {https://doi.org/10.11648/j.ijcd.20210402.12},
eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijcd.20210402.12},
abstract = {Introduction: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is caused by germline heterozygous mutations of the fumarate hydratase (FH) gene. Materials and Methods: A retrospective observational study was conducted, aimed at characterizing the clinical features, histopathology, and genetic mutations in eighteen patients with confirmed HLRCC diagnosis. Results: FH gene mutations were identified in the seven families studied, including a previously undescribed mutation. All index cases of the families included were suspected on skin manifestations. Thirteen of the 18 patients (72%) presented cutaneous leiomyomas. The chief complaint was pain, with complete but transient response to botulinum toxin in one. No evidence of malignant transformation was observed. Uterine leiomyomas were present in seven of the eight women studied (88%). There was no evidence of renal cell carcinoma in any of the patients in the study. The most frequently found mutations were missense type (43%), followed by large rearrangements (24%), intronic deletions (14%) and nonsense (14%). A novel mutation not previously described in the literature is presented. Conclusions: HLRCC is a rare disease but it is also probably underdiagnosed. Dermatologists have an essential role in its diagnosis, by recognizing the clinical characteristics of the syndrome and investigating the family history.},
year = {2021}
}
TY - JOUR T1 - Reed Syndrome in Eighteen Patients: A Genodermatosis Where Piloleiomyomas May Be the Diagnostic Clue AU - Susana Medina-Montalvo AU - Ana Rodríguez-Villa Lario AU - José María Mesa-Latorre AU - Ana Vidal-Conde AU - Alba Gómez-Zubiaur AU - Isabel Polo-Rodríguez AU - Ana Belén Piteriro-Bermejo AU - Dolores Vélez-Velázquez AU - Juan de Dios Garcia AU - Lidia Trasobares-Marugán Y1 - 2021/11/17 PY - 2021 N1 - https://doi.org/10.11648/j.ijcd.20210402.12 DO - 10.11648/j.ijcd.20210402.12 T2 - International Journal of Clinical Dermatology JF - International Journal of Clinical Dermatology JO - International Journal of Clinical Dermatology SP - 16 EP - 22 PB - Science Publishing Group SN - 2995-1305 UR - https://doi.org/10.11648/j.ijcd.20210402.12 AB - Introduction: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is caused by germline heterozygous mutations of the fumarate hydratase (FH) gene. Materials and Methods: A retrospective observational study was conducted, aimed at characterizing the clinical features, histopathology, and genetic mutations in eighteen patients with confirmed HLRCC diagnosis. Results: FH gene mutations were identified in the seven families studied, including a previously undescribed mutation. All index cases of the families included were suspected on skin manifestations. Thirteen of the 18 patients (72%) presented cutaneous leiomyomas. The chief complaint was pain, with complete but transient response to botulinum toxin in one. No evidence of malignant transformation was observed. Uterine leiomyomas were present in seven of the eight women studied (88%). There was no evidence of renal cell carcinoma in any of the patients in the study. The most frequently found mutations were missense type (43%), followed by large rearrangements (24%), intronic deletions (14%) and nonsense (14%). A novel mutation not previously described in the literature is presented. Conclusions: HLRCC is a rare disease but it is also probably underdiagnosed. Dermatologists have an essential role in its diagnosis, by recognizing the clinical characteristics of the syndrome and investigating the family history. VL - 4 IS - 2 ER -
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