Sclerotic fibroma was first described in association with Cowden's disease by Weary et al. in 1972. In 1989, Rapini and Golitz detailed 11 cases of solitary sclerotic fibroma (SFS) in the absence of Cowden's disease, suggesting the term SFS of the skin. Classic histological features include hypocellular, hyalinized bands of collagen sharply demarcated from the surrounding skin. Numerous authors have described sclerotic fibroma-like changes in other entities including melanocytic nevi, dermatofibromas, lipomas, tendon sheath fibromas, giant cell collagenomas, neurofibromas, angiofibromas, erythema elevatum diutinum, and folliculitis. Dissension has arisen, with some dermatopathologists asserting that sclerotic fibroma is just an evolutionary end-point of a previous lesion. Others contend that SFS is a distinct lesion and cite recurrent cases and/or proliferation marker studies to corroborate this view. We detail the histopathological findings of lesions consistent with the classic description of SFS and compare these to sclerotic changes observed in an intradermal nevus, blue nevus, erythema elevatum diutinum, neurofollicular hamartoma, angiofibroma, neurofibroma, accessory nipple, and dermatofibromas. Sclerotic fibroma-like change may be seen in a variety of lesions and may represent a common reaction pattern in the skin.
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http://dx.doi.org/10.1111/j.0303-6987.2004.00199.x | DOI Listing |
BMJ Case Rep
January 2025
Medicine, Government Medical College Kota, Kota, Rajasthan, India.
This case report presents markedly different clinical and radiological manifestations of the same disease in a family over three consecutive generations with varying treatment strategies. The index case/proband primarily presented with gastrointestinal symptoms, including diarrhoea, bleeding per rectum and seizures. Further evaluation revealed bilateral renal angiomyolipoma and cerebral subependymal nodules, in conjunction with facial adenoma sebaceum, periungual fibromas and hypomelanotic ash-leaf macules.
View Article and Find Full Text PDFMol Genet Genomics
December 2024
Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.
Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by the formation of benign tumors in various organs, particularly in the central nervous system. We aimed to delineate the molecular profile of Turkish individuals diagnosed with TSC by analyzing the TSC1 and TSC2 genes using next-generation sequencing (NGS). Sophia Genetics' Sophia Inherited Disease Panel was used to perform NGS on 22 individuals diagnosed with TSC and to identify pathogenic variants in the TSC1 and TSC2 genes.
View Article and Find Full Text PDFRev Esp Anestesiol Reanim (Engl Ed)
December 2024
Servicio de Anestesiología, Reanimacióny Terapéutica del Dolor, Hospital Clínic de Barcelona, Barcelona, Spain.
Clin Cosmet Investig Dermatol
December 2024
Department of Pathology, College of Basic Medicine of Inner Mongolia Medical University, Hohhot, Inner Mongolia, 010059, People's Republic of China.
Background: Tuberous sclerosis complex (TSC) is a rare autosomal-dominant disorder involving multiple organs including skin, brain, heart, lung, kidney and liver. It usually occurs as early as birth or even in utero, with rare cases diagnosed in their adulthood. Here, we present a rare adult case of TSC presenting as periungual fibromas (PF).
View Article and Find Full Text PDFTrop Doct
December 2024
Professor, Department of Pulmonary Medicine, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.
Angiomyolipomas are the benign tumours of the kidney which occur either sporadically or in association with tuberous sclerosis complex (TSC). Symptoms typically develop with an increase in the size of the lesion. We present a clinical image of a patient with giant renal angiomyolipomas who had other clinical features of TSC (facial angiofibromas, periungual fibroma, subependymal nodules in the brain, and lung cysts).
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