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A 10-year-old girl is brought to the physician because of several 1- to 3-cm, light brown macules on her trunk as shown in the photograph. Physical examination shows axillary freckling. Neurologic examination shows no focal findings. Which of the following is the most likely diagnosis?
A. Dysplastic nevus syndrome
B. Neurofibromatosis
C. Osler-Weber-Rendu disease
D. Tuberous sclerosis
E. von Hippel-Lindau disease
E. PO4
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von Hippel-Lindau disease (VHL) is a rare, genetic multi-system disorder characterized by the abnormal growth of tumors in certain parts of the body (angiomatosis). The tumors of the central nervous system (CNS) are benign and are comprised of a nest of blood vessels and are called hemangioblastomas (or angiomas in the eye). Hemangioblastomas may develop in the brain, the retina of the eyes, and other areas of the nervous system. Other types of tumors develop in the adrenal glands, the kidneys, or the pancreas. Symptoms of VHL vary among patients and depend on the size and location of the tumors. Symptoms may include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems, and high blood pressure. Cysts (fluid-filled sacs) and/or tumors (benign or cancerous) may develop around the hemangioblastomas and cause the symptoms listed above. Individuals with VHL are also at a higher risk than normal for certain types of cancer, especially kidney cancer.
Tuberous sclerosis (TSC) is a rare genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. It commonly affects the central nervous system. In addition to the benign tumors that frequently occur in TSC, other common symptoms include seizures, mental retardation, behavior problems, and skin abnormalities. TSC may be present at birth, but signs of the disorder can be subtle and full symptoms may take some time to develop. Three types of brain tumors are associated with TSC: cortical tubers, which generally form on the surface of the brain; subependymal nodules, which form in the walls of the ventricles (the fluid-filled cavities of the brain); and giant-cell astrocytomas, a type of tumor that can block the flow of fluids within the brain.
Dysplastic Nevus Syndrome:
"Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome.
HHT is an autosomal dominant disorder manifested by telangiectases of the skin and mucous membranes and arteriovenous malformations (AVMs), a potential source of serious morbidity and mortality. Larger telangiectases can affect the nasopharynx, central nervous system (CNS), lung, liver, and spleen, as well as the urinary and GI tracts. Epistaxis is the most common manifestation, and gastrointestinal bleeding is also prevalent. Because onset of symptoms may be delayed into the fourth decade of life (approximately 90% of patients manifest by age 40 y) or later decades (97% manifest by age 60 y), genetic testing has been advocated. Appropriate screening programs aim to limit complications.
Diagnosis of HHT is made clinically by the Curaçao criteria, established in June 1999 by the Scientific Advisory Board of the HHT Foundation International, Inc. More stringent than previous guidelines, the goals of the new criteria are to standardize research and to improve management of HHT.
Osler-Weber-Rendu disease (OWRD)= Hereditary hemorrhagic telangiectasia (HHT)
The HHT diagnosis is classified as definite if 3 criteria are present, possible or suspected if 2 criteria are present, and unlikely if fewer than 2 criteria are present. The Curaçao criteria include the following:
Epistaxis - Spontaneous, recurrent nosebleeds
Telangiectases - Multiple at characteristic sites (lips, oral cavity, fingers, nose)
Visceral lesions - Such as GI telangiectasia (with or without bleeding), pulmonary AVM, hepatic AVM, cerebral AVM, spinal AVM
Family history - A first-degree relative with HHT
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Dont know what PO4 is, so ANSWER - B (Neurofibromatosis)
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multiple light brown macules on the trunk-- typical sign of neurofibroma.
