Fibrous cephalic plaques in tuberous sclerosis complex - 14/03/18
Abstract |
Background |
Fibrous cephalic plaques (FCPs) stereotypically develop on the forehead of patients with tuberous sclerosis complex (TSC). They constitute a major feature for TSC diagnosis and may present before other TSC-related cutaneous hamartomas.
Objective |
To describe the clinical characteristics of FCPs in TSC.
Methods |
A total of 113 patients with TSC were enrolled in an observational cohort study. Retrospective analysis of medical records and skin photography was performed. FCPs were categorized by anatomic location and size.
Results |
FCPs were observed in 36% of patients (41 of 113). Of 62 total lesions, 58% were 1 to less than 5 cm, 13% were 5 cm or larger, and 29% were of unknown size mostly because of prior excision. The distribution of lesions was 39% on the forehead, 27% on the face (nonforehead), 3% on the neck, and 31% on the scalp. Fourteen patients had similar lesions less than 1 cm in diameter. Histopathologically, FCPs displayed dermal collagenosis, decreased elastic fibers, and features of angiofibromas or fibrofolliculomas.
Limitations |
Men were under-represented because the cohort was enriched for patients with TSC with lymphangioleiomyomatosis, which occurs in adult women.
Conclusion |
Two-fifths of FCPs presented on the forehead, with most of the remainder in other locations on the face and scalp. Better recognition of these lesions may lead to earlier diagnosis of TSC.
Le texte complet de cet article est disponible en PDF.Key words : connective tissue nevus, cutaneous manifestations of tuberous sclerosis, diagnosis of tuberous sclerosis, familial tumor syndrome, fibrous cephalic plaques, forehead plaque, hamartoma, histology of fibrous cephalic plaque, neurocutaneous, scalp fibroma, tuberous sclerosis complex
Abbreviations used : BHD, FCP, mTOR, TSC
Plan
| Funding sources: Supported by National Institutes of Health (NIH) R01AR062080 and the Intramural Research Program of the National Institutes of Health, National Heart, Lung, and Blood Institute. This research was also made possible through the NIH Medical Research Scholars Program, a public-private partnership supported jointly by the NIH and generous contributions to the Foundation for the NIH from the Doris Duke Charitable Foundation, the American Association for Dental Research, the Colgate-Palmolive Company, Genentech, and other private donors. For a complete list, visit the foundation website at www.fnih.org. |
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| Conflicts of interest: None disclosed. |
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| The opinions and assertions expressed herein are those of the authors and do not necessarily reflect the official policy or position of the Uniformed Services University, the Department of Defense, or the National Institutes of Health. |
Vol 78 - N° 4
P. 717-724 - avril 2018 Retour au numéro
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