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• W2106565224 abstract "Background Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by tumors and hamartomas in several organs including the skin. Objective We sought to describe a new type of complex hamartoma in patients with TSC. Methods This was a retrospective clinical and histopathologic evaluation of 6 cases. Results The skin lesions consisted of large, painless, infiltrated plaques that were first noticed at birth or during early infancy on the abdomen, thigh, back, or scalp. In time, the plaques became studded with numerous follicular comedo-like openings and cysts containing and draining a keratinous or purulent material. The main histopathologic features were: abundant collagen deposition in the dermis and extending into the underlying fat; concentric, perifollicular fibrosis surrounding hair follicles; and comedones and keratin-containing cysts lined by infundibular epithelium, some of which were ruptured with secondary granulomatous reaction. Five of the 6 patients had a clinical diagnosis of TSC. Limitations Genetic testing was performed in only one patient. Conclusion This distinctive folliculocystic and collagen hamartoma has not been recognized previously in association with TSC. Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by tumors and hamartomas in several organs including the skin. We sought to describe a new type of complex hamartoma in patients with TSC. This was a retrospective clinical and histopathologic evaluation of 6 cases. The skin lesions consisted of large, painless, infiltrated plaques that were first noticed at birth or during early infancy on the abdomen, thigh, back, or scalp. In time, the plaques became studded with numerous follicular comedo-like openings and cysts containing and draining a keratinous or purulent material. The main histopathologic features were: abundant collagen deposition in the dermis and extending into the underlying fat; concentric, perifollicular fibrosis surrounding hair follicles; and comedones and keratin-containing cysts lined by infundibular epithelium, some of which were ruptured with secondary granulomatous reaction. Five of the 6 patients had a clinical diagnosis of TSC. Genetic testing was performed in only one patient. This distinctive folliculocystic and collagen hamartoma has not been recognized previously in association with TSC." @default.
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• W2106565224 date "2012-04-01" @default.
• W2106565224 modified "2023-10-18" @default.
• W2106565224 title "Folliculocystic and collagen hamartoma of tuberous sclerosis complex" @default.
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• W2106565224 doi "https://doi.org/10.1016/j.jaad.2011.04.002" @default.
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