Multiple familial pilomatricomas: a cutaneous marker for Gardner syndrome?

Abstract

A 40-year-old man and his 6-year-old only son had numerous, firm papulonodular lesions on their faces. Their medical histories were unremarkable and no family consanguinity was recorded. Surgical excision of several lesions was performed on each patient. All the lesions were solid tumors with the characteristic histopathologic features of pilomatricoma. A gastrointestinal radiologic and fibroscopic survey disclosed numerous adenomatous colonic polyps in the father. Additional studies revealed that he also had minor dental abnormalities, a small osteoma on the right mandible, and unilateral, ocular, pigmented retinal macules. The diagnosis of multiple adenomatous colonic polyposis was established only after the well-known association of pilomatricoma-like changes in epidermal cysts in patients with Gardner syndrome was considered. Possibly, multiple familial pilomatricomas could be considered a cutaneous marker of Gardner syndrome.

• Authors: R M Pujol, J M Casanova, R Egido, J Pujol, J M de Moragas
• Journal: Pediatric dermatology (Pediatr Dermatol) Vol. 12 Issue 4 Pg. 331-5 (Dec 1995) ISSN: 0736-8046 [Print] United States
• PMID: 8747580 (Publication Type: Case Reports, Journal Article)

Topics

• Adult
• Child
• Gardner Syndrome (diagnosis)
• Hair Diseases (genetics, pathology)
• Humans
• Male
• Neoplasms, Multiple Primary (diagnosis, genetics)
• Pilomatrixoma (genetics, pathology)
• Skin (pathology)
• Skin Neoplasms (genetics, pathology)