The cutaneous pathology of facial lesions in Cowden's disease

Abstract

A study of 11 facial lesions from 7 patients with Cowden's disease indicated that most belong to a spectrum of related follicular malformations. The most distinctive lesions included multiple facial trichilemmomas, which were frequently cylindrical, resembling a blown-up hair follicle, but could be lobular. Four of the 5 trichilemmomal lesions were from the centrofacial area. Three periauricular lesions showed the pattern of tumor of follicular infundibulum without trichilemmonal features. Two lesions were epidermal without a follicular component and resembled digitate warts. No evidence of virus infection was found using an antiserum to papilloma virus.

Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features

“…Based on early reports in the dermatology literature, papillomatous papules, trichilemmomas, acral keratoses, and mucosal lesions were thought to affect nearly all patients with CS 34 35. While it is possible that CS related skin lesions may have been under-reported in our cohort, it is also likely that prior reports overestimated the frequency of skin lesions with CS.…”

Multiple inverted follicular keratoses as a presenting sign of Cowden's syndrome: Case report with human papillomavirus studies

“…Also, lesions with features similar to inverted follicular keratosis (IFK) have been reported. 7 Extrafacial epithelial lesions may resemble seborrheic keratoses, verruca plana, or verruca vulgaris. Acrokeratosis verruciformis-like lesions may also be seen as well as hyperkeratotic and acanthotic palmoplantar keratoses.…”

Acinic cell carcinoma of the retromolar trigone region: expanding the tumor phenotype in Cowden syndrome?

“…The diagnosis of CS is mainly clinical and is made using established diagnostic criteria [8]. Mucocutaneous manifestations such as multifocal oral mucosal papules, trichilemmomas and multiple facial papules are considered pathognomonic and almost invariably manifest in these patients [9][10][11]. Macrocephaly (C95th centile) is the most frequent extracutaneous feature, being present in about 80% of cases [11].…”