Journal of the American Academy of Dermatology · 2011
Folliculocystic and collagen hamartoma of tuberous sclerosis complex.
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Torrelo Antonio, Hadj-Rabia Smail, Colmenero Isabel, Piston Robert, Sybert Virginia P, Hilari-Carbonell Helena, Hernández-Martín Angela, Ferreres Joan C, Vañó-Galván Sergio, Azorín Daniel, de Salamanca Javier Enríquez, Requena Luis, Bodemer Christine, Happle Rudolf, García-Patos Vicente, Fraitag Sylvie
Аннотация
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.
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.