Journal of the American Academy of Dermatology
Volume 63, Issue 2 , Pages 244-251, August 2010

Acral lesions in tuberous sclerosis complex: Insights into pathogenesis

  • Capt Shelley L. Aldrich, USAF, MC, MD

      Affiliations

    • Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, Maryland
    • ,
  • Chien-Hui Hong, MD, MS

      Affiliations

    • Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, Maryland
    • Department of Dermatology, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan
    • ,
  • Leslie Groves, BS

      Affiliations

    • Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, Maryland
    • ,
  • Cara Olsen, DrPH

      Affiliations

    • Biostatistics Consulting Center, Uniformed Services University of the Health Sciences, Bethesda, Maryland
    • ,
  • Joel Moss, MD, PhD

      Affiliations

    • Translational Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland
    • ,
  • Thomas N. Darling, MD, PhD

      Affiliations

    • Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, Maryland
    • Corresponding Author InformationReprint requests: Thomas N. Darling, MD, PhD, Department of Dermatology, Uniformed Services University of Health Sciences, 4301 Jones Bridge Rd, Bethesda, MD 20814.

Accepted 19 August 2009. published online 12 May 2010.

Background

Patients with tuberous sclerosis complex (TSC) are predisposed to developing ungual fibromas and other acral lesions.

Objective

We sought to determine the numbers, types, and locations of acral skin lesions in TSC.

Methods

We examined and photographed 76 adult women with TSC.

Results

The age of the patients ranged from 20 to 69 years, with a mean age of 39 ± 11 years. Ungual fibromas were observed in 61 of 76 patients (80%). Periungual fibromas were more common than subungual fibromas, were more common on the feet than the hands, and showed the greatest frequency on the fifth toe. Longitudinal grooves in the nails occurred with or without a visible fibroma. Longitudinal short red streaks–lesions that we term “red comets”–were observed in 22 patients (29%). Longitudinal leukonychia was observed in 14 patients (18%). One patient had isolated digital overgrowth and one patient had pachydermodactyly.

Limitations

No men or children were included in this study.

Conclusions

Examination of patients for skin lesions of TSC could be improved by including inspection for longitudinal nail grooves, red comets, longitudinal leukonychia, and splinter hemorrhages in addition to ungual fibromas. The anatomic distribution of TSC ungual fibromas is not random and appears consistent with trauma-promoted tumor formation.

Key words: fingernails, periungual fibroma, subungual fibroma, toenails, tuberous sclerosis complex

 

 The first two authors contributed equally to this article.

 Supported by a Clinical Scientist Development Award from the Doris Duke Charitable Foundation, R01 CA100907, and the Intramural Research Program of the National Institutes of Health, National Heart, Lung, and Blood Institute.

 Conflicts of interest: None declared.

PII: S0190-9622(09)01154-2

doi:10.1016/j.jaad.2009.08.042

Journal of the American Academy of Dermatology
Volume 63, Issue 2 , Pages 244-251, August 2010