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32 Cards in this Set
- Front
- Back
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Sign of Leser Trelat
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Sudden eruption and progression of multiple seborrheic keratoses caused by a malignancy
Often occurs with malignant acanthosis nigricans |
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Sister Joseph nodule
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Firm, indurated umbilical nodule usually associated with advanced, metastasizing intrabdominal cancer indicative of poor prognosis
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Askin tumor
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Malignant round cell tumor arising from the chest wall
Also known as extraosseous Ewing sarcoma and pPNET (peripheral primitive neuroectodermal tumor) |
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Klatskin tumor
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Cholangiocarcinoma arising at the confluence of the right and left hepatic ducts
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Peutz Jehger syndrome
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AD chromosome 19
Sx - Freckles on lips, mouth, anus - GI hamaratomas - Increased risk of GI, testicular, and ovarian cancers |
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Kruckenburg tumor
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Gastric cancer metastasis to the ovary
Characterized by signet ring cells with mucin |
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Rosenthal fibers
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JPA
Oval or elongated eosinophilic mass believed to represent a modified astrocyte process Occur in slowly growing astrocytomas and areas of chronic reactive gliosis |
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Steven-Treves syndrome
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Rare, deadly cutaneous angiosarcoma that develops in long-standing chronic lymphedema of any cause including congential or post-mastectomy
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Richter syndrome
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Rare and aggressive type of acute adult leukemia that results from a transformation of chronic lymphocytic leukemia into diffuse large cell lymphoma
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Lhermitte's sign
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Sudden electric-like shocks extending down the spine on flexing the head
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Gorlin's sign
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Unusual ease in touching the tip of one's nose with the tongue
Seen in Ehlers-Danlos |
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Doll's eye sign
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Reflex movement of the eyes in the opposite direction to that which the head is moved
Indication of functional integrity of the brainstem tegmental pathways and cranial nerves involved in eye movement |
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Mobius sign
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Imparied ocular convergence in Graves' disease
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Seeligmuller's sign
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Contraction of the pupil on the affected side in facial neuralgia
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Parinaud's syndrome
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Parinaud's ophthalmoplegia
Paralysis of conjugate upward gaze with a lesion at the level of the superior colliculi Bell's phenomenon is present - Patient with peripheral facial paralysis - Cannot close eyelids of affected wide without at the same time moving the eyeball upward and outward |
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Romberg's sign or symptoms
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If closing the eyes increases unsteadiness of a standing patient, a loss of proprioceptive control is indicated.
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Reyes' Syndrome
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In young children follows acute febrile illness
Recurrent emesis within a week of onset of infection Recovers within 1-2 days or lapses into coma with intracranial HTN Elevated serum transaminases |
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Verocay bodies
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"Clear" spaces outlined by opposing rows of parallel nuclei seen microscopically in neurilemomas (schwannoma)
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Psammoma body
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Mineralized bodies occurring in the meninges, choroid plexus, and in certain meningiomas
Composed usually of a central capillary surrounded by concentric whorls of meningocyes in various stages of hyaline change and mineralizaion |
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Flexner-Wintersteiner rosettes
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Found only in retinal embryonic tumors
Formed by a group of columnar cells with a peripheral basement membrane arranged in a radial manner around a central cavity |
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typhlitis
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Cecitis
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Gardner's Syndrome
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Variant of familial adenomatous polyposis (FAP)
Autosomal dominant disease - Adenomatous polyposis coli (APC) focus at 5q21 - 1 per million; FAP 1/8000 GI polyps, multiple osteomas Skin and soft tissue tumors Epidermoid cysts, desmoid tumors Polyps have a 100% risk of undergoing malignant transformation |
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Brown-Sequard syndrome
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Due to unilateral cord involvement
Ipsilateral loss - Motor function - Fine touch sensation Contralateral loss - Pain sensation - Temperature sensation |
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Eponyms: Lynch I
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Eponyms: Lynch I (HNPCC)
- Familial colon cancer - - Inherited risk due to mutations that degrade self-repair capability of DNA -- MHL1 Together with MSH2 90% -- MSH2 Together with MHL1 90% -- MSH6 10% -- PMS <5% -- PMS2 < 5% |
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Eponyms: Lynch II
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Eponyms: Lynch II (HNPCC)
- Increased risk of GI and reproductive cancers - Inherited risk due to mutations that degrade self-repair capability of DNA -- MHL1 Together with MSH2 90% -- MSH2 Together with MHL1 90% -- MSH6 10% -- PMS <5% -- PMS2 < 5% |
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Eponyms: HBOC Syndrome
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Eponyms: HBOC Syndrome
- Early age of breast cancer (< 50) - FH of both ovarian and breast cancers - Increased risk of bilateral disease in ovaries or breast - AD attern of inheritance - Increased tumors in prostate - Increased risk -- FH male breast cancer -- Ashkenazi Jewish ancestry - Due to mutations in tumor suppressor genes -- BRCA1 on chrom 17 -- BRCA2 on chrom 13 |
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Gorlin Syndrome
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Basal cell nevus syndrome
Cutaneoumandibular polyoncosis Autosomal dominant inheritance Myriad basal cell nevi, odontogenic keratocyts, eerythematous pitting of palms aand soles, calcification of the cerebral falx, and frequent skeletal anomalies (esp in the ribs |
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NF1
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Von Recklinghausen
Chromosome 17q11.2 - autosomal dominant 1/3500 live birth Encodes neurofibromin 50% germline; 50% new mutations PNS neurofibroms, cafe au lait spots Optic and intracranial gliomas Bone abnormalities |
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NF2
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Chromosome 22
1/50,000 live births Encodes merlin - autosomal dominant Bilateral acoustic neuromas Gliomas, ependymomas, meningiomas |
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Nelson's syndrome
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Postadrenalectomy syndrome
- Hyperpigmentation - 3rd nerve damage - Enlarging sella turcica caused by pituitary adenomas presumably present before adrenalectomy for Cushing's syndrome but enlarging and symptomatic afterward |
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Moyamoya
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Progressive stenoses of Circle of Willis
--> successive ischemic events --> irreversible blockage of carotids as they enter skull Hereditary and linked to chrom 17 Occurs with NF, Downs, sickel cell disease |
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Lisch nodules
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Iris hamartomas
Occur in NF1 |
