| GI Disease | Neurologic Disease | Diabetes Mellitus | Cardiac Disease | Porphyrias |
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| 200 | 200 | 200 | 200 | 200 |
| 300 | 300 | 300 | 300 | 300 |
| 400 | 400 | 400 | 400 | 400 |
| 500 | 500 | 500 | 500 | 500 |
| Final Question | ||||
What is the syndrome that can result from mutation in Endoglin?
What is the syndrome that can result from mutation in Endoglin?
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu)
Endoglin (ENG) or Activin receptor-like kinase-1 (ACK1, ACVRL1) -> proteins belonging to TGF-beta receptor complex that play a role in forming the vascular system
Telangiectasias, epistaxis, melena, AV malformations in liver, lung, CNS
What are these lesions found in this moustached AIDS patient in association with HHV-8?
What are these lesions found in this moustached AIDS patient in association with HHV-8?
Kaposi's Sarcoma
Name 3 autoantibodies associated with Duhring's Disease.
Name 3 autoantibodies associated with Duhring's Disease.
aka Dermatitis Herpetiformis:
Anti-Gliadin
Anti-Tissue Transglutaminase or Anti-Epidermal Transglutaminase
Anti-Endomysial
Name 3 syndromes associated with the PTEN gene.
Name 3 syndromes associated with the PTEN gene.
Cowden's Syndrome
Bannayan-Riley-Ruvalcaba
Proteus Syndrome
What is the GENE mutated in a syndrome characterized by soft, painful, compressible blue cutaneous tumors associated with GI involvmeent and melena?
What is the GENE mutated in a syndrome characterized by soft, painful, compressible blue cutaneous tumors associated with GI involvmeent and melena?
VMCM1 gene - Blue Rubber Bleb Nevus Syndrome
Autosomal dominant or sporadic
Cutaneous lesions, GI lesions -> melena
Lung, eye and CNS lesions
What is the gene mutated in Bloch-Sulzberger Disease?
What is the gene mutated in Bloch-Sulzberger Disease?
NEMO
Incontinential Pigmenti
Stages:
1 = Vesicular
2 = Verrucous
3 = Hyperpigmentation
4 = Hypopigmentation
What are the genes responsible for a syndrome with hair shaft findings of alternating bright and dark bands?
What are the genes responsible for a syndrome with hair shaft findings of alternating bright and dark bands?
XPD=ERCC2 or XPB=ERCC3 (DB = Dark Bands)
Trichothiodystrophy or PIBIDS or Tay's Syndrome
Photosensitivity, Ichthyosis, Brittle hair, Intellectual impairment, Decreased fertility, Short stature
Reduced sulfur content in hair
Polarosocpy reveals tiger tail banding or trichothiodystrophy. Can also see trichoschisis, pili torti, trichorrhexis nodosa.
Photosensitivity but no increased risk of skin cancer.
This disorder is similar to XP with photosensitivity and neurologic degeneration, however in contrast to XP, there is neither premature aging nor skin cancer. Bird-headed facies, "Mickey Mouse" ears and dwarfism are hallmarks of this syndrome.
This disorder is similar to XP with photosensitivity and neurologic degeneration, however in contrast to XP, there is neither premature aging nor skin cancer. Bird-headed facies, "Mickey Mouse" ears and dwarfism are hallmarks of this syndrome.
Cockayne Syndrome
Genes: CSA=ERCC8, CSB=ERCC6, XPG
Mnemonic: Walt Disney on cocaine
What are plexiform neurofibromas capable of transforming into in NF1? (either of 2 possible correct answers will be accepted)
What are plexiform neurofibromas capable of transforming into in NF1? (either of 2 possible correct answers will be accepted)
Neurofibrosarcoma
Malignant Peripheral Nerve Sheath Tumor
Spastic tetraplegia can be seen in which syndrome?
Spastic tetraplegia can be seen in which syndrome?
Sjögren–Larsson syndrome
FALDH (Fatty aldehyde dehydrogenase) deficiency (they fall down) --> accumulated fatty alcohol/aldehyde lipids
More common in Sweden
Triad of congenital ichthyosis, di- or tetraplegia, mental retardation
Perifovial glistening white dots (fall down, see stars), grand mall seizures.
What is the name for the condition which presents as painless, symmetric, woddy "peau d'orange" induration of the upper back and neck in long-standing type 2 diabetic obese males?
What is the name for the condition which presents as painless, symmetric, woddy "peau d'orange" induration of the upper back and neck in long-standing type 2 diabetic obese males?
Scleredema Diabeticorum
Type 1 = Acute type secondary to strep pyogenes
Type 2 = Associated paraproteinemia
Type 3 = Type 2 DM
What are the individual components of the acronym HAIRAN syndrome?
What are the individual components of the acronym HAIRAN syndrome?
HyperAndrogenism
Insulin Resistance
Acanthosis Nigricans
What is the name for the condition associated with a positive "prayer sign"
What is the name for the condition associated with a positive "prayer sign"
Diabetic Limited Joint Mobility = Cheiroarthropathy
Tightness and thickening of the skin and periarticular tissue of the fingers with resultant painless loss of joint mobility
Physical therapy and tight control of hyperglycemia
What is this lesion consisting of red-brown papules which progress to sharply demarcated yellow-brown atrophic, telangiectatic plaques with a violaceous, irregular border? Histology shows palisading granulomas containing degenerating collagen with inflammatory infiltrate containing plasma cells and multinucleated histiocytes.
What is this lesion consisting of red-brown papules which progress to sharply demarcated yellow-brown atrophic, telangiectatic plaques with a violaceous, irregular border? Histology shows palisading granulomas containing degenerating collagen with inflammatory infiltrate containing plasma cells and multinucleated histiocytes.
Necrobiosis Lipoidica Diabeticorum (NLD)
Thought to be secondary to nonenzymatic glycosylation of dermal collagen and elastin.
Ulcer prevention. No impact of tight glucose control on developing NLD, but diabetics with NLD have higher rate of microvascular complications and limited joint mobility.
What is this? Hint: It is the most common cutaneous manifestation of diabetes.
What is this? Hint: It is the most common cutaneous manifestation of diabetes.
Diabetic Dermopathy or "Shin Spots" or Pigmented Pretibial Papules
Bilateral asymptomatic red-brown atrophic macules on the shins
No effective treatment.
What is the syndrome caused by mutation sin Fibrillin 1 that results in aortic root aneurysms, rupture and dissection as well as mitral valve prolapse?
What is the syndrome caused by mutation sin Fibrillin 1 that results in aortic root aneurysms, rupture and dissection as well as mitral valve prolapse?
Marfan's Syndrome
Striae distensae, abdominal wall hernias, elastosis perforans serpiginosa, upward ectopia lentis, tall stature, hyperextensible joints, pectus excavatum, arachnodactyly, kyphoscoliosis, emphysema, pneumothorax, Gorlin sign
This autosomal recessively inherited condition results from deficiancy of cystathionine beta synthase.
This autosomal recessively inherited condition results from deficiancy of cystathionine beta synthase.
Homocystinuria
Deficient cystathionine beta synthase -> elevated srum homocysteine -> inhibition of collagen cross-linking
Arterial and venous thromboses, generalized osteoporosis, mental retardation, downward ectopia lentis.
Tx: Avoid methionine and homocysteine. Supplement with cysteine, pyridoxine, folate, B12.
This autosomal dominantly inherited disorder results from a mutation in COL3A1 encoding procollagen type 3 which results in arterial, bowel and uterine rupture.
This autosomal dominantly inherited disorder results from a mutation in COL3A1 encoding procollagen type 3 which results in arterial, bowel and uterine rupture.
Ehlers-Danlos Type IV (Vascular Type)
Type 3 collagen abundant in skin, lungs and vasculature.
Thin, translucent, easily bruisable skin, thin nose and upper lip.
Joint mobility is normal, although atlantoaxial subluxation can occur.
This autosomal recessively inherited disorder is caused by a mutation in the RECQL2 gene which encodes a DNA helicase.
This autosomal recessively inherited disorder is caused by a mutation in the RECQL2 gene which encodes a DNA helicase.
Werner Syndrome (Adult Progeria)
Growth arrest at puberty, premature aging/balding/graying, sclerodermoid appearance, poikiloderma, leg ulcers, painful callosities of feet and ankles, and cataracts by age 30
Premature cardiac atherosclerosis accounts for early death
Type 2 DM, tumors of uterus, breast, liver and thyroid.
This syndrome is characterized by osteogenesis imperfecta plus arthrogryposis multiplex.
This syndrome is characterized by osteogenesis imperfecta plus arthrogryposis multiplex.
Brack Syndrome
Arthrogryposis: ("Hooked or curved joints") Multiple joint contractures, muscle weakness, fibrosis
What is the range of wavelengths known as the Soret band?
What is the range of wavelengths known as the Soret band?
400 - 410 nm
At what wavelength doe plasma fluoresce in Variegate Porphyria?
At what wavelength doe plasma fluoresce in Variegate Porphyria?
626 nm (diagnostic)
Name 3 things that can cause pseudoporphyria.
Name 3 things that can cause pseudoporphyria.
U R Totally Nailed After Last Night's Party, Dude...
UVA
Renal failure on HD
Tetracycline
Nalidixic acid (quinolone Abx)
Amiodarone
Lasix
Naproxen/NSAIDs
Pyridoxine
Dapsone
What is the deficient enzyme in the form of porphyria that presents soon after birth with red urine, erythrodontia, and hypertrichosis?
What is the deficient enzyme in the form of porphyria that presents soon after birth with red urine, erythrodontia, and hypertrichosis?
Uroporphyrinogen III Synthetase (UPS delivers the baby)
Congenital Erythropoietic Porphyria (CEP)
Which form of porphyria can presnet with porphyrin gallstones in a child?
Which form of porphyria can presnet with porphyrin gallstones in a child?
Erythropoietic Protoporphyria (EPP)
Ferrochelatase deficiency
What is the autosomal recessive disorder involving the peroxisomal enzyme phytanoyl-CoA hydroxylase with abnormalitites including ichthyosis, EKG changes, cardiomyopathy, deafness, anosmia, peripheral neuropathy, decreased deep tendon reflexes, cerebellar ataxia, and retinitis pigmentosa?
What is the autosomal recessive disorder involving the peroxisomal enzyme phytanoyl-CoA hydroxylase with abnormalitites including ichthyosis, EKG changes, cardiomyopathy, deafness, anosmia, peripheral neuropathy, decreased deep tendon reflexes, cerebellar ataxia, and retinitis pigmentosa?
Refsum Disease
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