Tuberous Sclerosis (ash-leaf patch)

Diagnosis: Tuberous Sclerosis (ash-leaf patch)

An ovoid, hypopigmented patch found on the trunk

Clinical Presentation

An ovoid, hypopigmented patch found on the trunk

Clinical History

Submitted by Alaa Saad. Originally posted September 3, 2010.

Treatment

See case discussion.

Differential Diagnosis

• Multiple endocrine neoplasia (facial papules) • Birt-Hogg-Dubé syndrome • Cowden syndrome • Neurofibromatosis • Epidermal nevus syndrome • Acrochordons

Key Learnings

• Autosomal dominant neurocutaneous disorder — TSC1 (hamartin) or TSC2 (tuberin) mutations → mTOR pathway overactivation • Cutaneous features (in order of appearance): ash leaf macules (earliest, even neonatal), facial angiofibromas (adenoma sebaceum), shagreen patch, periungual fibromas (Koenen tumors) • Ash leaf macules: best visualized under Wood lamp — present in >90% of patients • "Confetti" skin lesions: hypopigmented macules 1-2mm — recently recognized as a specific sign • Forehead fibrous plaque: pathognomonic but often overlooked • Multi-system hamartomas: brain (cortical tubers, SEN, SEGA), kidney (angiomyolipomas), heart (rhabdomyomas), lungs (LAM) • mTOR inhibitors (sirolimus, everolimus) — targeted therapy for multiple manifestations including angiofibromas

Tags: tuberous, sclerosis, ash, leaf, patch, alaa saad