A M Cartron1,2, D Buccine2, A M Treichel1,2, C R Lee3, J Moss1, T 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
BACKGROUND: Tuberous sclerosis complex (TSC) is a hamartoma syndrome characterized by multiple skin lesions, such as angiofibromas, shagreen patch and miliary fibromas (MiF). OBJECTIVE: To determine the clinical and histological features of MiF. METHODS: A retrospective analysis was conducted on 133 adults with TSC. Photography was used to characterize the appearance and location of MiF. Histological features in five skin samples from four individuals were evaluated by a board-certified dermatopathologist. RESULTS: MiF were observed in 19 of 133 (14%) individuals with TSC. MiF were 1- to 3-mm skin-coloured, sessile papules scattered on the back and rarely buttocks or thighs. Most were scattered in a bilaterally symmetric distribution, but others were asymmetric or associated with a shagreen patch. Histological features of MiF included expansion of the papillary and periadnexal dermis with variable hamartomatous abnormalities involving adjacent epithelial components. CONCLUSIONS: MiF are distinct from other cutaneous lesions in TSC such as shagreen patches and angiofibromas. Recognition of this entity is important in defining the spectrum of TSC disease and reassuring individuals with TSC that these lesions are benign. Published 2021. This article is a U.S. Government work and is in the public domain in the USA.
BACKGROUND: Tuberous sclerosis complex (TSC) is a hamartoma syndrome characterized by multiple skin lesions, such as angiofibromas, shagreen patch and miliary fibromas (MiF). OBJECTIVE: To determine the clinical and histological features of MiF. METHODS: A retrospective analysis was conducted on 133 adults with TSC. Photography was used to characterize the appearance and location of MiF. Histological features in five skin samples from four individuals were evaluated by a board-certified dermatopathologist. RESULTS: MiF were observed in 19 of 133 (14%) individuals with TSC. MiF were 1- to 3-mm skin-coloured, sessile papules scattered on the back and rarely buttocks or thighs. Most were scattered in a bilaterally symmetric distribution, but others were asymmetric or associated with a shagreen patch. Histological features of MiF included expansion of the papillary and periadnexal dermis with variable hamartomatous abnormalities involving adjacent epithelial components. CONCLUSIONS: MiF are distinct from other cutaneous lesions in TSC such as shagreen patches and angiofibromas. Recognition of this entity is important in defining the spectrum of TSC disease and reassuring individuals with TSC that these lesions are benign. Published 2021. This article is a U.S. Government work and is in the public domain in the USA.
Authors: Michelle A Bongiorno; Neera Nathan; Oyetewa Oyerinde; Ji-An Wang; Chyi-Chia Richard Lee; G Thomas Brown; Joel Moss; Thomas N Darling Journal: JAMA Dermatol Date: 2017-07-01 Impact factor: 10.282
Authors: Xinlun Tian; Jennifer E Glass; David J Kwiatkowski; Alexander J Towbin; Yinan Li; Kristen L Sund; Darcy A Krueger; David N Franz; Francis X McCormack; Nishant Gupta Journal: Ann Am Thorac Soc Date: 2021-05
Authors: Alison M Treichel; Deeti J Pithadia; Chyi-Chia R Lee; Oyetewa Oyerinde; Joel Moss; Thomas N Darling Journal: Histopathology Date: 2021-07-21 Impact factor: 7.778