Diagnosis: Case description: 40 yo female. Developing country. Diagnosis: tuberous sclerosis (TS). Intellectual disability. Photos: angiofibromas and ungual fibromas. CT scan: multiple calcified subependymal nod
Social Rounds Feature from social media! Social Rounds is where we feature interesting and educational cases on social media. Discover new cases and profiles you should follow too! This case came across the wires on Instagram – Follow @globaldermie who recently posted this most interesting case! Diagnosis: Tuberous Sclerosis Case description: 40 yo female. Developing country. Diagnosis: [ ]
Social Rounds Feature from social media! Social Rounds is where we feature interesting and educational cases on social media. Discover new cases and profiles you should follow too! This case came across the wires on Instagram – Follow @globaldermie who recently posted this most interesting case! Diagnosis: Tuberous Sclerosis Case description: 40 yo female. Developing country. Diagnosis: tuberous sclerosis (TS). Intellectual disability. Photos: angiofibromas and ungual fibromas. CT scan: multiple calcified subependymal nodules along margins of lateral ventricles. Autosomal dominant inherited genetic disorder characterized by hamartoma formation in multiple organs caused by mutations in genes TSC1 encoding hamartin and TSC2 encoding tuberin (which form a complex involved with PI3K signaling pathway, regulates cell growth/proliferation). 2/3 occur due to spontaneous mutation. TS frequently affects heart, kidneys, nervous system, and skin. Diagnosis may be difficult, subtle. Manifestati
Facial angiofibromas, hypopigmented macules (ash leaf spots), shagreen patch. Seizures, developmental delay. Family history. Multi-organ screening: brain MRI, renal ultrasound, echocardiogram.
mTOR inhibitors: topical rapamycin for facial angiofibromas, systemic everolimus for SEGA and renal AML. Laser for angiofibromas. Anticonvulsants for seizures. Multi-disciplinary surveillance.
• Multiple endocrine neoplasia (facial papules) • Birt-Hogg-Dubé syndrome • Cowden syndrome • Neurofibromatosis • Epidermal nevus syndrome • Acrochordons
• 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: dermatology