Familial multiple pilomatrixomas as a presentation of attenuated adenomatosis polyposis coli
ABSTRACT Pilomatrixomas are benign follicular tumors that occur most commonly in children. Rare multiple or familial pilomatrixomas have been associated with myotonic dystrophy and other disorders. Although sporadic pilomatrixomas and hybrid cutaneous cysts with pilomatrixoma-like features have been observed in some kindreds with Gardner syndrome, an autosomal dominant form of familial adenomatous polyposis, no definitive association has been made with multiple or familial pilomatrixomas. Here we describe two siblings with multiple pilomatrixomas who were also found to have a family history of colonic adenocarcinoma. Genetic testing revealed a mutation in the 5' portion of the adenomatous polyposis coli (APC) gene, in a region associated with an attenuated APC phenotype. These findings show that multiple pilomatrixomas may be the presenting symptom of patients with APC gene mutations.
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ABSTRACT: Pilomatricomas, or calcifying epitheliomas of Malherbe, are among the most common superficial cutaneous soft tissue lesions in children. Familiarity with the presenting signs and symptoms allows for the diagnosis to be made on physical examination alone in most patients, avoiding expensive and unnecessary diagnostic imaging. A retrospective IRB-approved review of surgical pathology archives and medical records of all patients undergoing excision of pilomatricomas between 1982 and 2010 was performed to determine the characteristics of the pilomatricoma tumors. Data regarding gender, age, location, size of tumor, and histopathology were collected. There were 916 pilomatricomas resected in 802 patients. Fifty-five percent of the patients were girls (441 patients). The median age at the time of resection was 6years (range 5months to 18years). Multiple lesions were found in 43 patients (5%). The most common location was head and neck (n=529, 58%), followed by upper limbs (n=214, 23%), trunk (n=130, 14%), and lower limbs (n=43, 5%). Information on size was available for 674 lesions; mean lesion diameter was 14.0 ±7.4mm. Twenty-eight patients (3%) had either recurrent (n=11) or metachronous (n=17) lesions resected at our institution, with a median interval of 12months after initial resection (range 5weeks to 5years). No cases of pilomatrix carcinoma were observed. The majority of pilomatricomas occur in the head and neck, although they can present in any location. Approximately 5% of children have multiple lesions. Pilomatricomas occur slightly more commonly in girls, and 66% of lesions occur in children <10years of age. Complete surgical excision is necessary to prevent recurrence. Recurrences and pilomatrix carcinoma are very rare if complete excision is achieved.Journal of Pediatric Surgery 07/2013; 48(7):1551-6. DOI:10.1016/j.jpedsurg.2012.08.007 · 1.31 Impact Factor
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ABSTRACT: Pilomatrixomas are benign cutaneous tumors derived from hair matrix cells of unclear etiology. Pilomatrixomas commonly demonstrate somatic mutations in CTNNB1, a gene coding β-catenin, a protein involved with hair follicle development. Multiple familial pilomatrixomas rarely occur and are most often associated with autosomal dominant conditions such as myotonic dystrophy and familial adenomatous polyposis (FAP). Nine families with multiple familial pilomatrixomas and no demonstrable underlying association have been reported in the literature. We present a tenth family in which five members spanning three generations grew multiple pilomatrixomas in the absence of any previously reported associations. No evidence of myotonic dystrophy, FAP, or other known associations was found. Extreme tiredness, behavioral problems, and sensory disturbances were common features across three generations but bore no temporal relation to the pilomatrixomas. The existence of a germline mutation in CTNNB1 to explain these symptoms has yet to be shown. Pilomatrixomas are potentially cutaneous markers of significant underlying pathologies. Patients presenting with multiple or familial pilomatrixomas should be thoroughly assessed for other pathologies and offered genetic screening to ensure that important diagnoses are not overlooked.Pediatric Dermatology 06/2014; 32(1). DOI:10.1111/pde.12353 · 1.52 Impact Factor