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Tuberous Sclerosis Complex (Cutaneous Findings)

Distinctive skin lesions of TSC including hypomelanotic macules, facial angiofibromas and shagreen patches.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Dermatoloji department. Book Appointment →

What is Tuberous Sclerosis Complex (Cutaneous Findings)?

Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder caused by TSC1 or TSC2 mutations, leading to mTOR pathway hyperactivation and benign tumors (hamartomas) in multiple organs. Skin findings are present in over 90% of patients and are integrated into the diagnostic criteria.

Major dermatologic findings include three or more hypomelanotic ash-leaf macules visible from infancy, facial angiofibromas (formerly adenoma sebaceum) on cheeks and nose appearing in childhood, shagreen patch on the lower back, ungual fibromas (Koenen tumors) under nails, and forehead fibrous plaques.

Recognition of these lesions enables early systemic evaluation for cortical tubers, subependymal nodules and SEGA, cardiac rhabdomyomas, renal angiomyolipomas, and lymphangioleiomyomatosis (LAM). Topical and systemic mTOR inhibitors revolutionized treatment.

Symptoms

Hypomelanotic ash-leaf macules (3 or more)
Facial angiofibromas on nose, cheeks, chin
Shagreen patch (orange peel) on lumbar back
Ungual or periungual fibromas
Forehead fibrous plaque
Confetti skin lesions
Cafe-au-lait macules (less specific)
Dental enamel pits and gingival fibromas

Risk Factors

TSC1 (hamartin) mutation
TSC2 (tuberin) mutation
Family history of TSC
Sporadic mutations (two-thirds of cases)
Prenatal cardiac rhabdomyoma on ultrasound
Mosaic TSC variants
Coexistent infantile spasms (West syndrome)

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Three or more ash-leaf macules in an infant
  • New facial angiofibromas in childhood
  • Subungual fibromas appearing in adolescence
  • Skin findings plus seizures or cognitive delay
  • Family history with cutaneous lesion
  • Need for systemic TSC screening (brain, kidney, heart MRI)

Treatment Methods

01
Topical mTOR inhibitor (sirolimus 0.2-1% ointment) for facial angiofibromas
02
Pulsed dye laser or vascular laser for facial angiofibromas
03
Surgical excision of large fibromas (Koenen tumors)
04
Systemic mTOR inhibitor (everolimus, sirolimus) for systemic disease
05
Photoprotection of hypomelanotic macules
06
CO2 laser for shagreen patch
07
Multidisciplinary TSC clinic follow-up
08
Genetic counseling and family screening

Which Department to Visit?

You can visit our Dermatoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Let us help you

You can make an appointment with our specialists or contact us for your concerns.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.