Tuberous Sclerosis (Shagreen patch-connective tissue nevus)

Diagnosis: Tuberous Sclerosis (Shagreen patch-connective tissue nevus)

flesh-colored soft plaque found in the trunk.

Clinical Presentation

flesh-colored soft plaque found in the trunk.

Clinical History

Submitted by Alaa Saad. Originally posted October 23, 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, shagreen, patch, connective, tissue, nevus, alaa saad