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Dermatopathology
Volume 12
Issue 3
10.3390/dermatopathology12030024
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Systematic Review

Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome

by
Gianmarco Saponaro
1,
Elisa De Paolis
2,*,
Mattia Todaro
1,
Francesca Azzuni
1,
Giulio Gasparini
1,
Antonio Bosso
1,
Giuliano Ascani
3,
Angelo Minucci
2 and
Alessandro Moro
1
1
Maxillo Facial Surgery Unit, Fondazione Policlinico Agostino Gemelli IRCCS Hospital, Largo Agostino Gemelli 8, 00168 Rome, Italy
2
Departmental Unit of Molecular and Genomic Diagnostics, Genomics Core Facility, Gemelli Scienze and Technology Park (G-Step), Fondazione Policlinico Agostino Gemelli IRCCS Hospital, Largo Agostino Gemelli 8, 00168 Rome, Italy
3
Maxillo Facial Surgery Unit, Ospedale Civile Santo Spirito Pescara, via Fonte Romana 8, 65100 Pescara, Italy
*
Author to whom correspondence should be addressed.
Dermatopathology 2025, 12(3), 24; https://doi.org/10.3390/dermatopathology12030024
Submission received: 14 April 2025 / Revised: 20 June 2025 / Accepted: 4 July 2025 / Published: 1 August 2025
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Abstract

Pilomatricomas are benign tumors originating from hair follicle matrix cells and represent the most common skin tumors in pediatric patients. Pilomatricomas may be associated with genetic syndromes such as myotonic dystrophy, familial adenomatous polyposis (FAP), Turner syndrome, Rubinstein–Taybi syndrome, Kabuki syndrome, and Sotos syndrome. This study reviews the literature on pilomatricomas occurring in syndromic contexts and presents a novel case linked to Apert syndrome. A systematic review was conducted using PubMed and Cochrane databases, focusing on case reports, case series, and reviews describing pilomatricomas associated with syndromes. A total of 1272 articles were initially screened; after removing duplicates and excluding articles without syndromic diagnoses or lacking sufficient data, 81 full-text articles were reviewed. Overall, 96 cases of pilomatricomas associated with genetic syndromes were identified. Reports of patients with Apert syndrome who do not develop pilomatricomas are absent in the literature. Pilomatricomas predominantly affect pediatric patients, with a slight female predominance, and are often the first manifestation of underlying genetic syndromes. Our study highlights previously unreported associations of pilomatricoma with Apert syndrome, providing molecular insights. This study contributes to understanding the clinical and molecular features of pilomatricomas in syndromic contexts and underscores the importance of genetic analysis for accurate diagnosis and management.
Keywords: pilomatricomas; genetic syndromes; apert syndrome; pilomatrixoma; syndromes; calcifying epithelioma of Malherbe pilomatricomas; genetic syndromes; apert syndrome; pilomatrixoma; syndromes; calcifying epithelioma of Malherbe

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MDPI and ACS Style

Saponaro, G.; De Paolis, E.; Todaro, M.; Azzuni, F.; Gasparini, G.; Bosso, A.; Ascani, G.; Minucci, A.; Moro, A. Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome. Dermatopathology 2025, 12, 24. https://doi.org/10.3390/dermatopathology12030024

AMA Style

Saponaro G, De Paolis E, Todaro M, Azzuni F, Gasparini G, Bosso A, Ascani G, Minucci A, Moro A. Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome. Dermatopathology. 2025; 12(3):24. https://doi.org/10.3390/dermatopathology12030024

Chicago/Turabian Style

Saponaro, Gianmarco, Elisa De Paolis, Mattia Todaro, Francesca Azzuni, Giulio Gasparini, Antonio Bosso, Giuliano Ascani, Angelo Minucci, and Alessandro Moro. 2025. "Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome" Dermatopathology 12, no. 3: 24. https://doi.org/10.3390/dermatopathology12030024

APA Style

Saponaro, G., De Paolis, E., Todaro, M., Azzuni, F., Gasparini, G., Bosso, A., Ascani, G., Minucci, A., & Moro, A. (2025). Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome. Dermatopathology, 12(3), 24. https://doi.org/10.3390/dermatopathology12030024

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