The dermatopathology of Cowden's syndrome*

Abstract

During the past 2 years we have studied eighty-nine biopsy specimens from nineteen patients with Cowden's syndrome. Among fifty-three facial lesions, twenty-nine were trichilemmomas. Twenty-three of the others were consistent with trichilemmoma, showed a non-specific benign verrucous acanthoma, or were not diagnostic; one was a blue naevus. All fourteen oral mucosal biopsy specimens were benign fibromas. Nineteen of twenty-two biopsy specimens from the hands and feet showed the pattern of benign keratosis. Multiple trichilemmomas were found in all patients with Cowden's syndrome, but at times several biopsy specimens were required before a diagnostic picture was uncovered. All patients with multiple facial trichilemmomas were found to have Cowden's syndrome. The combination of multiple facial trichilemmomas, oral fibromas, and benign acral keratoses enables one to diagnose Cowden's syndrome at a stage before serious internal complications develop.

Early onset of neoplasia in the prostate and skin of mice with tissue-specific deletion of Pten

“…2H) (20,21). Whereas no benign tumors were observed in hair follicles or tongue of Pten mutant mice, these tissues were mildly hyperplastic in the absence of Pten (Fig.…”

Novel PTEN mutations in patients with Cowden disease: absence of clear genotype–phenotype correlations

“…6 Other typical features include oral and facial papules, goitre and benign hamartomas of the thyroid and digestive tract. 7 A large number of CD patients (ie more than 80%) develops macrocephaly, 2 which is a true megalencephaly, but only a fraction of the patients develop Lhermitte-Duclos disease (LDD). This rare condition is believed to be a hamartomatous outgrowth of the cerebellum, characterised by hypertrophic ganglion cells.…”

An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region

“…Any two major criteria; or one major and two minor criteria; or 3 minor criteria are sufficient for an operational diagnosis in a family where one individual meets the clinical diagnostic criteria or has a PTEN mutation benign skin adnexal tumours possess a smooth or warty surface and range from 2 mm to more than 10 mm [4]. Acral keratosis presents as 2-3 mm skin coloured or tan papules on the palms and soles (and can resemble common warts) [5,6].…”

“…Multiple papillomatous papules arise on the oral mucosa most commonly on the ventral tongue, lips, buccal mucosa, gingivae and palate [5,7]. These flesh-coloured firm papules are 1-7 mm in diameter and their multiplicity can produce a cobblestone-like appearance [8,9].…”