1.Tuberous sclerosis complex in a 20-year-old female: Delayed recognition and life-threatening outcomes
Maria Roma Ignacio Gonzales‑Abalos ; May Fernandez Gonzales
Journal of the Philippine Dermatological Society 2024;33(1):25-28
Tuberous sclerosis complex (TSC) is a rare, autosomal dominant multisystem disorder affecting the brain,
heart, kidneys, lungs, and skin leading to significant morbidity and mortality. We report a case of TSC and
highlight the need for prompt diagnosis and proper surveillance to minimize life‑threatening complications.
A 20‑year‑old female presented with facial and ungual papulonodular lesions 4 years after being diagnosed
with epilepsy at the age of eight. No family history of genetic diseases was reported. Eight years later, the
patient developed recurrent cough, shortness of breath, and blurring of vision. Biopsy of facial and digital
nodule showed angiofibroma and ungual fibroma (Koenen tumor), respectively. Chest computed tomography
scan revealed extensive cystic lesions diffusely scattered throughout the entire lung parenchyma suggestive
of lymphangioleiomyomatosis. Cranial MRI revealed cortical and subependymal tubers, compatible
with TSC. The patient had multidisciplinary management. However, her symptoms progressed, and she
eventually succumbed to death. Cutaneous lesions such as facial angiofibromas and ungual fibromas along
with multisystemic manifestations should alarm the clinician to TSC. Given its highly variable expressivity,
awareness of different TSC‑associated signs and symptoms is essential for prompt diagnosis, proper
treatment, disease monitoring, and early recognition of TSC complications.
Angiofibroma
;
Lymphangioleiomyomatosis
;
Tuberous Sclerosis