Folliculocystic and collagen hamartoma of tuberous sclerosis complex

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

Research output: Contribution to journalArticleResearchpeer-review

27 Citations (Scopus)

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. © 2011 by the American Academy of Dermatology, Inc.
Original languageEnglish
Pages (from-to)617-621
JournalJournal of the American Academy of Dermatology
Volume66
Issue number4
DOIs
Publication statusPublished - 1 Apr 2012

Keywords

  • collagen nevus
  • hamartoma
  • tuberous sclerosis complex

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