A 4-year-old developmentally delayed boy is brought to the emergency department by his parents because he has had gross hematuria for 2 days. The patient has a past history of seizures of unknown origin. His family is indigent and they have been unable to get regular care and checkups. Initial examination reveals an uncomfortable, skinny boy. Vital signs are: temperature 37.5ºC (99.5ºF), heart rate 110 beats/min, blood pressure 90/40 mmHg, respiratory rate 20 breaths/min, pulse oximetry 99% on room air. Cardiac, abdominal, and lung examination are normal. Ophthalmologic exam reveals a gray-colored lesion in the back of the globe. Dermatologic exam reveals adenoma sebaceum on the face, hypomelanotic macules, periungal fibromas, and firm areas
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Tuberous sclerosis (TSC) is complex, multifaceted genetic disorder that results in production of hamartomatous lesions that may affect virtually every organ system of the body. The best-known cutaneous manifestation, presented in this vignette, of TSC is adenoma sebaceum. This lesion is an angiofibroma (cutaneous hamartoma) and the name is a misnomer, as it is not related to excessive sebum or acne. Flat, reddish, macular lesions develop first, which can be initially mistaken for freckles. Some of the more significant findings for TSC include subependymal giant-cell astrocytomas, hepatic cysts and hepatic angiomyolipomas (AMLs), sclerotic and hypertrophic lesions of the bone, cardiac rhabdomyomas, retinal astrocytomas, autosomal-dominant polycystic kidney disease, isolated renal cysts, angiomyolipomas, and renal cell carcinomas. Additional dermatological findings include pitting of the dental enamel and gingival fibromas. Diagnosis is clinical with the presence of a major or a combination of minor criteria (definite diagnosis = either two major features or one major feature plus two minor …show more content…
Turcot syndrome presents with multiple adenomatous colon polyps, an increased risk of colorectal cancer, and an increased risk of cortical and subcortical carcinomas. The type of cancer generally depends on whether the Turcot syndrome is more similar to Lynch syndrome or FAP. The two most common types of brain tumors in Turcot syndrome are glioblastoma or medulloblastoma.
Choice “E” is not the best answer. Von Hippel–Lindau (VHL) disease is a genetic disorder characterized by visceral cysts and benign tumors in multiple organ systems. These cysts have a high potential to develop into malignancies. Clinical hallmarks of VHL disease include the development of retinal and central nervous system hemangioblastomas, pheochromocytomas, multiple cysts in the pancreas and kidneys, and an increased risk for malignant transformation of renal cysts into renal cell carcinoma.
Approximately 50% of patients with von Hippel–Lindau (VHL) disease have retinal hemangioblastomas, a finding absent in the case vignette. Endolymphatic sac tumors causing hearing loss, tinnitus, vertigo, and facial weakness are also another presenting feature of VHL[3].Note that the patient in this case vignette does have an abnormal ophthalmologic exam. The boy has retinal lesions, called astrocytic hamartomas (or "phakomas"), which appear as a greyish or yellowish-white lesion in the back of the globe on the ophthalmic
Tuberous sclerosis (TSC) is complex, multifaceted genetic disorder that results in production of hamartomatous lesions that may affect virtually every organ system of the body. The best-known cutaneous manifestation, presented in this vignette, of TSC is adenoma sebaceum. This lesion is an angiofibroma (cutaneous hamartoma) and the name is a misnomer, as it is not related to excessive sebum or acne. Flat, reddish, macular lesions develop first, which can be initially mistaken for freckles. Some of the more significant findings for TSC include subependymal giant-cell astrocytomas, hepatic cysts and hepatic angiomyolipomas (AMLs), sclerotic and hypertrophic lesions of the bone, cardiac rhabdomyomas, retinal astrocytomas, autosomal-dominant polycystic kidney disease, isolated renal cysts, angiomyolipomas, and renal cell carcinomas. Additional dermatological findings include pitting of the dental enamel and gingival fibromas. Diagnosis is clinical with the presence of a major or a combination of minor criteria (definite diagnosis = either two major features or one major feature plus two minor …show more content…
Turcot syndrome presents with multiple adenomatous colon polyps, an increased risk of colorectal cancer, and an increased risk of cortical and subcortical carcinomas. The type of cancer generally depends on whether the Turcot syndrome is more similar to Lynch syndrome or FAP. The two most common types of brain tumors in Turcot syndrome are glioblastoma or medulloblastoma.
Choice “E” is not the best answer. Von Hippel–Lindau (VHL) disease is a genetic disorder characterized by visceral cysts and benign tumors in multiple organ systems. These cysts have a high potential to develop into malignancies. Clinical hallmarks of VHL disease include the development of retinal and central nervous system hemangioblastomas, pheochromocytomas, multiple cysts in the pancreas and kidneys, and an increased risk for malignant transformation of renal cysts into renal cell carcinoma.
Approximately 50% of patients with von Hippel–Lindau (VHL) disease have retinal hemangioblastomas, a finding absent in the case vignette. Endolymphatic sac tumors causing hearing loss, tinnitus, vertigo, and facial weakness are also another presenting feature of VHL[3].Note that the patient in this case vignette does have an abnormal ophthalmologic exam. The boy has retinal lesions, called astrocytic hamartomas (or "phakomas"), which appear as a greyish or yellowish-white lesion in the back of the globe on the ophthalmic