Pilomatricoma in Turner Syndrome: Association with Renal Malformations and Analysis of the Vitamin D Pathway
8 affiliations
- 1Laboratorio de Citogenética, Instituto Nacional de Pediatría, Mexico City 04530, Mexico
- 2Departamento de Patología, Instituto Nacional de Pediatría, Mexico City 04530, Mexico
- 3Laboratorio de Farmacología, Instituto Nacional de Pediatría, Mexico City 04530, Mexico
- 4Servicio de Dermatología, Instituto Nacional de Pediatría, Mexico City 04530, Mexico
- 5Laboratorio de Oncología Experimental, Instituto Nacional de Pediatría, Mexico City 04530, Mexico
- 6Departamento de Genética Humana, Instituto Nacional de Pediatría, Mexico City 04530, Mexico
- 7Departamento de Medicina Genómica y Toxicología Ambiental, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, Mexico City 04510, Mexico
- 8Laboratorio de Genómica del Metabolismo Óseo, Instituto Nacional de Medicina Genómica, Mexico City 14610, Mexico
Abstract
Pilomatricoma is a rare benign cutaneous neoplasm that may occur more frequently in syndromic conditions such as Turner syndrome (TS). This study aimed to evaluate the prevalence and clinical characteristics of pilomatricoma and its association with clinical factors, serum vitamin D (VD) levels, and genetic variants in the VD pathway in patients with TS. Clinical variables and serum VD levels were obtained from medical records, and single-nucleotide variants in the GC, NADSYN1, and VDR genes were analyzed by allelic discrimination using real-time polymerase chain reaction. Among 97 patients with TS, six cases of histopathologically confirmed pilomatricoma were identified, corresponding to a prevalence of 6.2%, with lesions predominantly located on the head and upper extremities. Four patients (66.7%) had renal malformations. In exploratory multivariable analysis, renal malformations were significantly associated with pilomatricoma (adjusted OR = 14.2; 95% CI: 2.1–95.4; nominal p = 0.008; FDR-adjusted p = 0.032). No significant associations were observed with serum VD levels or the analyzed genetic variants. These findings suggest that pilomatricoma may be more frequent in TS than previously reported and identify an exploratory association between pilomatricoma and renal malformations. Given the small number of pilomatricoma cases, this association requires confirmation in larger independent cohorts.
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BibTeX
@article{rios2026pilomatricoma,
title = {{Pilomatricoma in Turner Syndrome: Association with Renal Malformations and Analysis of the Vitamin D Pathway}},
author = {Rehotbevely Barrientos Rios and Rodolfo Rodríguez-Jurado and Luz María Torres Espíndola and Marimar Sáez-de-Ocariz and José Velázquez Aragón and Óscar Pérez González and Camilo Villarroel Cortés and Miguel Rodríguez Morales and Sara Frías and Rafael Velázquez Cruz},
journal = {International Journal of Molecular Sciences},
year = {2026},
month = oct,
doi = {10.3390/ijms27219485},
url = {https://www.mdpi.com/1422-0067/27/21/9485},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Pilomatricoma in Turner Syndrome: Association with Renal Malformations and Analysis of the Vitamin D Pathway
AU - Rehotbevely Barrientos Rios
AU - Rodolfo Rodríguez-Jurado
AU - Luz María Torres Espíndola
AU - Marimar Sáez-de-Ocariz
AU - José Velázquez Aragón
AU - Óscar Pérez González
AU - Camilo Villarroel Cortés
AU - Miguel Rodríguez Morales
AU - Sara Frías
AU - Rafael Velázquez Cruz
PY - 2026
DA - 2026/10/23
JO - International Journal of Molecular Sciences
DO - 10.3390/ijms27219485
UR - https://www.mdpi.com/1422-0067/27/21/9485
AB - Pilomatricoma is a rare benign cutaneous neoplasm that may occur more frequently in syndromic conditions such as Turner syndrome (TS). This study aimed to evaluate the prevalence and clinical characteristics of pilomatricoma and its association with clinical factors, serum vitamin D (VD) levels, and genetic variants in the VD pathway in patients with TS. Clinical variables and serum VD levels were obtained from medical records, and single-nucleotide variants in the GC, NADSYN1, and VDR genes were analyzed by allelic discrimination using real-time polymerase chain reaction. Among 97 patients with TS, six cases of histopathologically confirmed pilomatricoma were identified, corresponding to a prevalence of 6.2%, with lesions predominantly located on the head and upper extremities. Four patients (66.7%) had renal malformations. In exploratory multivariable analysis, renal malformations were significantly associated with pilomatricoma (adjusted OR = 14.2; 95% CI: 2.1–95.4; nominal p = 0.008; FDR-adjusted p = 0.032). No significant associations were observed with serum VD levels or the analyzed genetic variants. These findings suggest that pilomatricoma may be more frequent in TS than previously reported and identify an exploratory association between pilomatricoma and renal malformations. Given the small number of pilomatricoma cases, this association requires confirmation in larger independent cohorts.
SN - 1422-0067
ER -