Acral lesions in tuberous sclerosis complex: Insights into pathogenesis

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...

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Bibliographic Details
Published in:Journal of the American Academy of Dermatology 2010-08, Vol.63 (2), p.244-251
Main Authors: Aldrich, Capt Shelley L., USAF, MC, MD, Hong, Chien-Hui, MD, MS, Groves, Leslie, BS, Olsen, Cara, DrPH, Moss, Joel, MD, PhD, Darling, Thomas N., MD, PhD
Format: Article
Language:English
Subjects:
Adult
Aged
Biological and medical sciences
Dermatology
Female
Fibroma - etiology
Fibroma - pathology
fingernails
Humans
Medical sciences
Middle Aged
Nail Diseases - etiology
Nail Diseases - pathology
Nails - pathology
Neurology
periungual fibroma
Skin - pathology
Skin Diseases - etiology
Skin Diseases - pathology
subungual fibroma
toenails
Tuberous Sclerosis - complications
Tuberous Sclerosis - pathology
tuberous sclerosis complex
Tumors of the nervous system. Phacomatoses
Young Adult
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Summary: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.
ISSN:0190-9622
1097-6787
DOI:10.1016/j.jaad.2009.08.042