Childhood pilomatricomas: Associated anomalies
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Published on: November 1, 2018
Camile Richet1, Aude Maza1, Isabelle Dreyfus1
1Larrey Hospital, Paul Sabatier University, Toulouse, France.
Insights
Pilomatricoma, a common pediatric tumor, may indicate underlying genetic conditions, especially when multiple lesions appear. Early diagnosis and family history review are crucial for proper management.
Area of Science:
- Pediatric Oncology
- Dermatology
- Clinical Genetics
Background:
- Pilomatricoma is a frequent benign skin tumor observed in pediatric patients.
- Management guidelines for pilomatricoma are essential for clinicians.
- Associated systemic diseases can occur with pilomatricoma.
Purpose of the Study:
- To review the literature on pilomatricoma in children.
- To aid clinicians in managing pediatric pilomatricoma cases.
- To identify potential associated conditions and guide diagnostic approaches.
Main Methods:
- Comprehensive literature review of PubMed database.
- Utilized exhaustive Medical Subject Heading (MeSH) terms.
- Analyzed retrospective series and case reports involving 1,458 children.
Main Results:
- Identified 32 children (2.2%) with associated diseases.
- Multiple pilomatricomas were more frequently linked to associated conditions (23/32 cases).
- Single pilomatricoma lesions were associated with diseases in 9 cases.
Conclusions:
- Reassure families and conduct thorough medical/family history interviews.
- Perform clinical examinations for specific genetic syndromes (e.g., Turner, Kabuki).
- Recommend long-term clinical follow-up; paraclinical tests are indicated for anomalies or positive family history.
Abstract:
Pilomatricoma is a common benign tumor in children. We present a review of the literature with the aim of helping clinicians manage these patients. A detailed review of the literature was performed in the PubMed database using an exhaustive list of Medical Subject Heading words. One thousand four hundred fifty-eight children were described in retrospective series and case reports. An associated disease was found in 32 children (2.2%), most of whom had several pilomatricomas (n = 23); 9 had a single lesion. Based on this literature review, we recommend reassuring the family and then conducting a detailed interview regarding past medical and family history and a thorough clinical examination for signs of Turner syndrome, constitutional mismatch repair deficiency, Kabuki syndrome, Steiner's myotonic dystrophy, or Gardner syndrome. Regular long-term clinical follow-up is recommended. Specific paraclinical examinations should be performed only in cases of other clinical anomalies or a positive family history. Pilomatricoma requires management because it may be associated with other potentially serious diseases, especially when multiple lesions are present.
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