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Fibrous cephalic plaques in tuberous sclerosis complex.

Oyetewa Oyerinde1, Danielle Buccine2, Alison Treichel1

  • 1Cardiovascular and Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland; Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, Maryland.

Journal of the American Academy of Dermatology
|December 21, 2017
PubMed
Summary

Fibrous cephalic plaques (FCPs) are common in tuberous sclerosis complex (TSC). Early recognition of these forehead and scalp lesions can aid in earlier TSC diagnosis.

Keywords:
connective tissue nevuscutaneous manifestations of tuberous sclerosisdiagnosis of tuberous sclerosisfamilial tumor syndromefibrous cephalic plaquesforehead plaquehamartomahistology of fibrous cephalic plaqueneurocutaneousscalp fibromatuberous sclerosis complex

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Area of Science:

  • Dermatology
  • Genetics
  • Medical Diagnostics

Background:

  • Fibrous cephalic plaques (FCPs) are characteristic skin lesions associated with tuberous sclerosis complex (TSC).
  • These lesions often appear on the forehead and can be an early indicator of TSC, sometimes preceding other cutaneous manifestations.
  • FCPs are a significant diagnostic feature for TSC.

Purpose of the Study:

  • To comprehensively describe the clinical presentation and characteristics of FCPs in patients diagnosed with TSC.
  • To analyze the prevalence, size, and distribution of FCPs within a cohort of TSC patients.

Main Methods:

  • An observational cohort study involving 113 patients with TSC.
  • Retrospective analysis of patient medical records and photographic documentation of skin lesions.
  • Categorization of FCPs based on anatomical location and size.

Main Results:

  • FCPs were identified in 36% of the studied TSC patients (41 out of 113).
  • Lesion distribution included 39% on the forehead, 27% on the non-forehead face, 3% on the neck, and 31% on the scalp.
  • Histopathological examination revealed dermal collagenosis, reduced elastic fibers, and features resembling angiofibromas or fibrofolliculomas.

Conclusions:

  • FCPs frequently occur on the forehead, face, and scalp in individuals with TSC.
  • Improved awareness and recognition of FCPs can potentially facilitate earlier diagnosis of tuberous sclerosis complex.