Premium
Syndromes associated with multiple pilomatricomas: When should clinicians be concerned?
Author(s) -
Ciriacks Kevin,
Knabel Daniel,
Waite Megan Brittany
Publication year - 2019
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.13947
Subject(s) - medicine , myotonic dystrophy , pilomatrixoma , family history , dermatology , pilomatricoma , familial adenomatous polyposis , genetic syndromes , microsatellite instability , colorectal cancer , pediatrics , cancer , genetics , microsatellite , gene , allele , biology
Background Multiple pilomatricomas have been linked to various syndromes. However, these associations are poorly defined, leaving practitioners conflicted on management of these patients. Objective To perform a comprehensive review to clarify the strength of these relationships and identify which patients may benefit from additional screening and/or genetic screening. Methods A literature search was performed using the PubMed, Ovid, and Cochrane databases. Syndromic, familial, and sporadic cases of multiple pilomatricomas were stratified based on number of pilomatricomas. This information was graphed for visual comparison. Results Sixty‐six syndromic cases from 52 publications were identified, with the majority (54) of cases representing myotonic dystrophy, familial adenomatous polyposis‐related syndromes (including Gardner syndrome), Turner syndrome, or Rubinstein‐Taybi syndrome. Twenty‐five of the 54 cases (46.3%) had six or more pilomatricomas. Of sporadic cases, 128 out of 134 (95.5%) had five or less pilomatricomas. Limitations Most articles were case reports and series, which are vulnerable to publication bias. Specific details were not explicitly noted in some original articles, and incomplete data could not always be included in analysis. Syndromes may have been missed in sporadic cases. Conclusion The presence of six or more pilomatricomas is highly suggestive of an underlying syndrome (>95% specificity). These patients should undergo additional screening. Patients with less than six pilomatricomas and family history of myotonic dystrophy, first‐degree relative with colon cancer or FAP‐related syndrome, or family history of pilomatricomas should also undergo further screening.