Alison M Treichel1,2, Deeti J Pithadia1,2, Chyi-Chia R Lee3, Oyetewa Oyerinde1,2, Joel Moss1, Thomas N Darling2. 1. Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA. 2. Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, MD, USA. 3. Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Abstract
AIMS: Fibrous cephalic plaques (FCPs) in individuals with tuberous sclerosis complex (TSC) may be excised for cosmetic reasons or biopsied to confirm lesion identification and TSC diagnosis. The aim of this study was to determine the range of histopathological features of FCPs. METHODS AND RESULTS: A retrospective analysis was conducted on 119 adults with TSC. Twenty-one lesions from 16 individuals were evaluated by a dermatopathologist. Additionally, we assessed whether lesion colour or histology varied by anatomical location. Seventy-six lesions were observed in 36 of 119 individuals. Erythematous lesions were more commonly found on the forehead, face or neck than on the scalp (odds ratio = 12.6, P = 0.0001). Thickened and disorganised collagen fibre bundles were present in 95% (20/21) of lesions. Perifollicular fibrosis was observed in 95% (20/21) of lesions, enhanced vascularity was observed in 52% (11/21) of lesions, and features of fibrofolliculoma were observed in 43% (9/21) of lesions. Other abnormalities included features similar to trichofolliculoma, follicular-derived, infundibular-type cysts, and abnormally arranged primitive hair follicles. CONCLUSIONS: FCPs in TSC show thickened bundles of collagen, and hamartomatous changes involving hair follicles. Recognition of these histopathological features may raise the possibility of unsuspected TSC or confirm FCP identification. Published 2021. This article is a U.S. Government work and is in the public domain in the USA.
AIMS: Fibrous cephalic plaques (FCPs) in individuals with tuberous sclerosis complex (TSC) may be excised for cosmetic reasons or biopsied to confirm lesion identification and TSC diagnosis. The aim of this study was to determine the range of histopathological features of FCPs. METHODS AND RESULTS: A retrospective analysis was conducted on 119 adults with TSC. Twenty-one lesions from 16 individuals were evaluated by a dermatopathologist. Additionally, we assessed whether lesion colour or histology varied by anatomical location. Seventy-six lesions were observed in 36 of 119 individuals. Erythematous lesions were more commonly found on the forehead, face or neck than on the scalp (odds ratio = 12.6, P = 0.0001). Thickened and disorganised collagen fibre bundles were present in 95% (20/21) of lesions. Perifollicular fibrosis was observed in 95% (20/21) of lesions, enhanced vascularity was observed in 52% (11/21) of lesions, and features of fibrofolliculoma were observed in 43% (9/21) of lesions. Other abnormalities included features similar to trichofolliculoma, follicular-derived, infundibular-type cysts, and abnormally arranged primitive hair follicles. CONCLUSIONS: FCPs in TSC show thickened bundles of collagen, and hamartomatous changes involving hair follicles. Recognition of these histopathological features may raise the possibility of unsuspected TSC or confirm FCP identification. Published 2021. This article is a U.S. Government work and is in the public domain in the USA.
Authors: Antonio Torrelo; Smail Hadj-Rabia; Isabel Colmenero; Robert Piston; Virginia P Sybert; Helena Hilari-Carbonell; Angela Hernández-Martín; Joan C Ferreres; Sergio Vañó-Galván; Daniel Azorín; Javier Enríquez de Salamanca; Luis Requena; Christine Bodemer; Rudolf Happle; Vicente García-Patos; Sylvie Fraitag Journal: J Am Acad Dermatol Date: 2011-08-12 Impact factor: 11.527
Authors: C Baykal; P Tekturk; A Polat Ekinci; N Buyukbabani; B Baykan; Z Yapici Journal: J Eur Acad Dermatol Venereol Date: 2016-08-13 Impact factor: 6.166
Authors: A M Cartron; D Buccine; A M Treichel; C R Lee; J Moss; T N Darling Journal: J Eur Acad Dermatol Venereol Date: 2021-02-23 Impact factor: 9.228