Syndromes associated with multiple pilomatricomas: When should clinicians be concerned?

Area of Science:

• Dermatology
• Genetics
• Oncology

Background:

• Multiple pilomatricomas are associated with various syndromes, but these links are not well-defined.
• This ambiguity complicates patient management and screening protocols.

Purpose of the Study:

• To clarify the association between multiple pilomatricomas and specific syndromes.
• To identify patient groups who would benefit from enhanced screening or genetic evaluation.

Main Methods:

• A comprehensive literature search was conducted across PubMed, Ovid, and Cochrane databases.
• Cases of multiple pilomatricomas were categorized into syndromic, familial, and sporadic groups.
• Data on the number of pilomatricomas per case were stratified and visually represented.

Main Results:

• Sixty-six syndromic cases were identified, predominantly linked to myotonic dystrophy, familial adenomatous polyposis-related syndromes, Turner syndrome, or Rubinstein-Taybi syndrome.
• Nearly half (46.3%) of syndromic cases had six or more pilomatricomas.
• Conversely, 95.5% of sporadic cases presented with five or fewer pilomatricomas.

Conclusions:

• The presence of six or more pilomatricomas has a high specificity (>95%) for an underlying syndrome, warranting further investigation.
• Patients with fewer than six pilomatricomas but relevant family histories (e.g., myotonic dystrophy, colon cancer, FAP-related syndromes) also require additional screening.