00:01 In this lecture, we're going to talk about Inherited Tumor Syndromes. 00:05 This is one of my favorite topics in neurology. 00:07 I'm really excited for you to learn this. 00:09 It is complicated and complex. 00:11 These patients are rare, but we see them in neurology, and I want you to understand how to diagnose, monitor, and treat some of these patients. 00:21 Let's start with a case. 00:23 So 21-year-old man who presented with pain. 00:26 He presented to the clinic with increasing pain, limiting activities of daily living. 00:31 Since birth, he has had multiple birthmarks over his body. 00:34 More than six. 00:36 And at puberty, he began to develop small bumps on his skin. 00:40 He was subsequently confirmed to have Lisch nodules. 00:43 Those are iris hamartomas. 00:46 Bumps and spots on the eyes that were evaluated by an eye doctor. 00:51 By the age of 19, he developed progressive pain in the neck, bilateral upper extremities, head, abdomen, pelvis, and at the sites of his cutaneous lesions. 01:00 So what's the diagnosis? Well, there's a few clinical features that we should see in this case. 01:06 The first is this patient has multiple birthmarks. 01:09 They sound hyperpigmented, like dark spots, and they may be cafe-au-lait macules. 01:15 So we want to be thinking about an inherited syndrome. 01:18 The second he has multiple bumps on the skin that are suggestive of neurofibromas. 01:24 So we may be thinking about a tumor condition that results in increased risk or presence of tumors of the nerves. 01:32 And this sounds like a genetic disorder. 01:34 It's been there his entire life. 01:36 So let's look at some of the characteristic findings in our patient. 01:40 Here on the left, we see a skin finding. 01:43 This is this birthmark. 01:44 This well circumscribed, sharply, demarcated lesion, you can draw a line around it. 01:50 It's hyperpigmented. 01:51 And this is the appearance of a cafe-au-lait macule. 01:55 On the right, we see these bumps, the bumps on the skin. 01:58 They're out on the surface. 01:59 Some may be a little bit deeper than in the surface, and there are multiple, all over the arms and legs in this patient. 02:06 And they have the appearance of a neurofibroma. 02:10 So what's the diagnosis? Is this NF1, NF2, schwannomatosis, or tuberous sclerosis? Well tuberous sclerosis, as we'll learn is a condition that often presents with seizures, brain findings, and kidney tumors. 02:24 We don't hear of any of those things in this patient. 02:26 This patient has cutaneous lesions. 02:29 This doesn't sound like a diagnosis of TSC. 02:33 Schwannomatosis. 02:34 This is a condition that is rare, really rare. 02:37 And often presents with pain. 02:39 Our patient has pain, but a lot of skin findings that we don't typically see in schwannomatosis. 02:45 So we don't like a diagnosis of schwannomatosis. 02:49 What about NF2? NF2 is an inherited condition. 02:53 It starts at the beginning of life, but typically presents with hearing loss from bilateral vestibular schwannomas. 03:00 And this patient does not have hearing loss. 03:03 This is the classic presentation of adult onset NF1. 03:08 A very typical presentation of a patient with cutaneous lesions and peripheral nerve lesions that are suggestive of this NF1 diagnosis. 03:18 So in this lecture, we're going to think about some of these inherited tumor syndromes. 03:22 We're going to learn about neurofibromatosis type 1, we're going to learn about neurofibromatosis type 2, and we're going to learn about tuberous sclerosis. 03:31 These are genetic conditions. 03:33 This is a group of autosomal dominant inherited conditions that are characterized by abnormalities in a tumor suppressor gene. 03:41 And that abnormality leads to tumor growth. 03:43 And primarily, we see tumors of the nerves. 03:46 When you think about these three conditions, I want you to think of them as tumor suppressor syndromes. 03:52 And when you think about tumor suppressor syndromes, I want you to think about these three diagnoses. 03:57 NF1, NF2, and tuberous sclerosis. 04:03 This group of conditions falls into a family of disorders that we call, the phakomatoses. 04:09 They are neurogenetic conditions. 04:11 They are neurologic manifestations, and they are genetic conditions. 04:15 We also call them neurocutaneous syndromes because there's neurologic involvement, and cutaneous findings. 04:22 This group we call the phakomatoses includes a lot of disorders. 04:26 Tuberous sclerosis we're going to learn about but other conditions includes Sturge-Weber, Von Hippel Lindau, and Ataxia-telangiectasia. 04:34 In the next part of this talk, I want to focus on neurofibromatosis. 04:39 We're going to talk about NF1, we're going to talk about NF2. 04:42 and I'll mention schwannomatosis. 04:44 Of these conditions NF1 is the most common, and we should spend the most time learning about that. 04:50 NF2 is important. 04:52 It can result in significant manifestations and morbidity from patients that have that disease, and we should also know about that. 05:00 Schwannomatosis is quite rare. 05:02 And I want you to know that it looks a lot like NF2. 05:05 But patients don't have brain tumors and they don't have brain findings. 05:09 And they really commonly present with pain. 05:11 So we don't spend a lot of time talking about schwannomatosis.
The lecture Case: 21-year-old Man with Pain by Roy Strowd, MD is from the course CNS Tumors.
Which of the following is a common symptom of neurofibromatosis type 1?
Which of the following conditions or lesions is associated with neurofibromatosis type 1?
A common feature of NF1, NF2, and tuberous sclerosis is ...
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