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.

Orthokeratinized Odontogenic Cyst with an Associated Keratocystic Odontogenic Tumor Component and Ghost Cell Keratinization and Calcifications in a Patient with Gardner Syndrome

“…The most common site of involvement is the head and neck [7,21,22]. Multiple pilomatricomas can be associated with myotonic dystrophy, GS, or Turner and Rubinstein-Taybi syndromes [4][5][6][23][24][25]. At the molecular level, pilomatricomas demonstrate activating mutations of CTNNB1 (b-catenin gene) [26,27].…”

“…Less frequently, multiple, familial, cutaneous [4][5][6] or intraosseous pilomatricomas [7] have been described.…”

Pilomatricoma in Elderly Individuals

“…Pilomatricomas are usually solitary tumors, but several lesions in patients have been reported [7, 16, 17]. Multiple pilomatricomas have been observed in association with Gardner’s syndrome [16, 18]. Furthermore, there are reports on the associated occurrence of pilomatricoma and myotonic dystrophy [19–21].…”

Two Cases of Pilomatrixoma in Turner’s Syndrome

“…Myotonic dystrophy is an autosomal dominant disease exhibiting myotonia, myoatrophy, heart block, cataracts, diabetes mellitus, testicular atrophy, mental retardation and premature frontal baldness [6]. Multiple lesions of pilomatrixoma were also reported in association with Gardner’s syndrome [8]and the Rubinstein-Taybi syndrome [9, 10, 11]. Gardner’s syndrome is an autosomal dominant condition that causes familial colonic polyposis.…”

“…Gardner’s syndrome is an autosomal dominant condition that causes familial colonic polyposis. It is associated with several extracolonic manifestations including osteoma of the face and long bones, multiple epidermoid cysts of the skin, retinal pigmentation, dental abnormalities and desmoid tumor [8]. The cutaneous cysts of Gardner’s syndrome have been reported to assume the histologic characteristics of follicular stem cells [12].…”