• Belete Sisay, Abilo Tadesse, Abebe Gelaw, Desalew Getahun, Biruk Mulat, Weynishet Kebede, and Yonathan Gebrewold.
• Department of Internal Medicine, College of Medicine and Health Sciences, University of Gondar, Gondar, Ethiopia.
• Medicine (Baltimore). 2024 Feb 9; 103 (6): e37135e37135.

RationaleTuberous sclerosis complex (TSC) is a rare autosomal dominant inherited disorder characterized by the development of nonmalignant tissue growths (hamartomas) in various organ systems, often located in the brain, skin, heart, lung and kidneys. The delayed diagnosis could be attributed to low expectation or exposure of physicians to this rare disease. High index of clinical suspicion is required for early diagnosis of rare diseases to prevent adverse outcomes.Patient ConcernsThe first patient, a 27-year-old man, presented with intermittent left flank pain and hematuria of 5 months duration. On examination of the skin and oral cavity, he had fibrous cephalic plaque, facial angiofibromas, ungual fibromas, confetti skin lesions, and intraoral fibromas. A CT scan of the chest, abdomen, and brain displayed cystic lung parenchymal changes and multifocal micronodular pneumocyte hyperplasia, angiomyolipomas in both kidneys, and multiple calcified subependymal nodules (SEN), respectively. The second patient, a 28-year-old woman, presented with a seizure disorder in the last 1 year, and papular and nodular lesions over her face since childhood. On examination of the skin and oral cavity, she had hypomelanotic macules, facial angiofibromas, shagreen patches, ungual fibromas, intraoral fibromas, and dental enamel pits.DiagnosesDefinitive diagnosis of TSC was made in both patients using the "2012 tuberous sclerosis complex diagnostic criteria consensus statement."InterventionsThe first patient was seen by various medical discipline teams, and suggested close follow-up in the "chronic illness clinic" of the hospital. The second patient was scheduled in dermatology clinic for electrocautery for disfiguring facial nodules.OutcomeBoth patients were scheduled for close follow-up in the hospital.LessonsThe patients described had TSC using "clinical diagnostic criteria." Under the clinical diagnostic criteria of TSC, 4 of 11 major criteria and 3 of 7 minor criteria are skin features. Hence, awareness on skin features as clinical markers to suspect TSC should be emphasized in resource-limited countries.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

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