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130 Cards in this Set
- Front
- Back
What enzyme deficiency is associated with a Clear Cell Acanthoma?
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Phosphorylase deficiency results in glycogen deposits inside keratinocytes.
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What are the 3 histological findings seen with Granular Parakeratosis?
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1) Thickened stratum corneum
2) Severe compact parakeratosis with retention of keratohyaline granules 3) Vascular proliferation & Ectasia |
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What is the cause of Axillary Granular Parakeratosis?
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An irritant response to rubbing, antiperspirants or deodorants
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Acquired Pseudoxanthoma Elasticum (PXE) is associated with what drug in newborns?
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Penicillamine
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What eye findings are associated with PXE?
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Angioid streaks of the retina
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What 2 blood disorders are associated with acquired PXE?
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1) Sickle cell anemia
2) Beta-Thalassemia |
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What 2 skin findings are seen in PXE?
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1) Yellow-ish Chicken-flesh-like skin
2) Later the skin becomes lax and wrinkled |
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What is the characteristic histological finding in PXE?
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Short blue fragmented and calcified dermal elastic fibers
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What are the 2 most important systemic manifestations of PXE?
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1) Intracerebral and
2) Intestinal hemorrhage |
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What is the gene defect associated with Trichorrhexis Invaginata or "Bamboo Hair"?
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SPINK5 gene
-chromosome 5q32 |
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What is the cause of "Bamboo Hair" seen with Trichorrhexis Invaginata?
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Intussusception of the hair shaft at the zone where keratinization begins
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What other syndrome is associated with "Bamboo Hair"?
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Netherton Syndrome
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Chediak-Higashi Syndrome is an AR disorder that results in what 3 cell defects?
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1) Giant Organelles (including melanosomes)
2) Leukocyte granules 3) Platelet-dense granules |
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What 4 main clinical features are seen in an infant born with Chediak-Higashi Syndrome?
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1) Silvery hair with a metallic sheen
2) Decreased ocular pigment with photophobia 3) Recurrent pyogenic infections 4) Increased bleeding time |
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What 4 immunologic defects are seen with Chediak-Higashi Syndrome?
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1) Neutropenia
2) Impaired antibody-dependant cell-mediated cytotoxicity 3) Reduced T-cell activity 4) Decreased natural killer cell function |
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What will a peripheral blood smear show in a patient with Chediak-Higashi Syndrome?
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Abnormally large granules in the perinuclear area of granulocytes
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Name the 3 clinical features seen in McCune-Albright Syndrome
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1) Precocious Puberty
2) Bony defects (Polyostotic fibrous dysplasia) 3) Unilateral Cafe-au-lait spots |
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Describe the clinical features of cafe-au-lait spots seen in McCune-Albright Syndrome
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Large unilateral pigmented patches with an irregular "Coast of Maine" border
-often over bony locations -follow Blaschko's lines |
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What are the 2 histological features seen in McCune-Albright Syndrome?
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1) Increased basal layer melanin
2) Giant melanosomes (macro-melanosomes) |
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What type of mutation on which chromosome is seen in McCune-Albright Syndrome?
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Activating mutations on chromosome 20q13
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Upregulation of which protein is seen in McCune-Albright syndrome?
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Upregulation of the alpha-subunit of the G protein, which controls cyclic AMP activity (causing stimulation of cAMP)
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What mood stabilizing drug should be avoided in Darier's disease?
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Lithium
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Darier's disease is an AD disorder caused by a mutation of what gene?
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ATP2A2 gene
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Darier's disease is an AD disorder caused by a mutation on which chromosome?
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Chromosome 12q23-24
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Darier's disease causes keratotic plaques in what distribution?
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Seborrheic distribution
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Hailey-Hailey causes keratotic plaques in what distribution?
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Intertrigenous
-Axilla and groin |
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Grover's disease causes keratotic plaques in what distribution?
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upper chest and back
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Darier's disease has what specific nail finding?
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V-shaped notches
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What 3 histological features are seen in Darier's disease?
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1) Acantholysis
2) Dyskeratosis 3) Corps Ronds & Grains |
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What gene defect causes Hailey-Hailey disease?
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ATP2C1
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Acrodermatitis Enteropathica is caused by an AR defect in which gene?
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Intestinal Zinc transport gene, SLC39A4
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Acrodermatitis Enteropathica lead to deficiency of what mineral?
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Zinc
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Cafe-au-Lait spots are seen in what 2 disorders?
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1) McCune-Albright Syndrome
2) NF1 |
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What 5 clinical features are seen in Neurofibromatosis 1 (NF1)?
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1) Cafe-au-lait spots (>6)
2) Neurofibromas (>2) 3) "Freckling" in the axilla or groin 4) Lisch Nodules of the Iris 5) Bony defects |
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What is the most common bony defect seen with NF1?
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Sphenoid Wing Dysplasia
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What 2 medications are associated with Acanthosis Nigricans?
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1) Insulin
2) Statins (HMG Co-A Reductase Inhibitors) |
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What is the histological feature of Xanthomas?
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Lipid-laden foamy histiocytes
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What are 2 common sites for Verruciform Xanthomas to occur?
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1) Around the Mouth
2) Scrotum |
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Xanthomas are also seen in what congenital syndrome?
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CHILD Syndrome
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What does CHILD syndrome stand for?
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Congenital Hemidysplasia
Ichthyosiform Erythroderma Limb Defect |
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What is the skin lesion you see with Multicentric Reticulohistiocytosis?
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Red-brown papules with a cobblestone appearance on face and hands
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What is the term for lesions around the nails seen with Multicentric Reticulohistiocytosis?
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"Coral Beading"
multiple tiny lumps around the nails |
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What bony disorder is seen with Multicentric Reticulohistiocytosis?
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Arthritis Mutilans in 50%
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What are the 2 histological features of Multicentric Reticulohistiocytosis?
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1) Abundance of non-foamy histocytes with ground-glass cytoplasm
2) Multinucleated, bizarre looking histiocytes |
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Multicentric Reticulohistiocytosis is associated with underlying malignancy. T or F?
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True
20-30% of cases |
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What are 2 other names for Basal cell nevus syndrome?
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1) Gorlin Syndrome
2) Bazex Syndrome |
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What is the gene defect in Basal Cell Nevus Syndrome?
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PTCH gene
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What 2 systemic manifestations are seen with Gorlin Syndrome?
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1) Odontogenic cysts in the jaw
2) Palmoplantar pits |
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What typical hair finding is seen with Trichothiodystrophy?
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Tiger Tail Hair
-under polarizing light |
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What AR disorder seen in infants leads to hair loss caused by sulfur-deficiency?
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Trichothiodystrophy
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What malignancy is associated with DH?
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Enteropathy-associated T-cell Lymphoma
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What malignancy is associated with chronic infection with H. pylori?
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Mucosa-associated lymphoid tissue (MALT)
-B-cell lymphoma in the gut |
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What 2 histological findings are seen in Calciphylaxis?
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1) Calification and
2) Fibroplasia of small vessels in the dermis and SQ |
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What is the triad of Calciphylaxis?
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1) Vascular calcification
2) Thrombosis 3) Skin Necrosis |
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What systemic disease is associated with Calciphylaxis?
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End-Stage Renal Failure
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What is the name for multiple angiokeratomas on the genitals?
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Fordyce Spots
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What is the name for multiple angiokeratomas on acral skin?
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Mibelli angiokeratomas
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What X-linked recessive disease is associated with diffuse widespread angiokeratomas?
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Fabry's Disease
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What is another name for Fabry's disease?
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Angiokeratoma Corporis Diffusum
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Fabry's is due to deficiency of what enzyme?
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alpha-galactosidase A
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What is another name for Morbihan's Disease?
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Lymphedematous Rosacea
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What clinical feature do you see in Morbihan's disease?
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Pitting edema of the central face, over time becoming irreversible hard non-pitting edema
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Name the 2 forms of Paget's Disease seen in the skin.
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1) Paget's disease of the breast
2) Extramammary Paget's disease |
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What type of carcinoma does Paget's disease of the breast represent?
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Intraepidermal extension of underlying intraductal breast carcinoma
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What type of carcinoma does extramammary Paget's represent?
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May be an extension of an underlying adenocarcinoma but commonly arises de novo
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Which 4 stains are positive in Paget's Disease?
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1) CEA
2) EMA 3) PAS 4) CAM 5.2 (low-molecular weight cytokeratins) |
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What stains can help differentiate Paget's from Melanoma and Bowen's disease?
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Melanoma: S100+, HMB-45+
Bowen's: CEA-, CK5/6+ Paget's: S100- |
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Superficial Pemphigus is also known as?
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Pemphigus Foliaceous
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What are the 3 histological features of PF?
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1) Subcorneal blister
2) Eosinophils 3) DIF+ for intracellular IgG, C3 |
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Seborrheic Dermatitis is associated with activation of which complement pathway?
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Alternative Complement Pathway
-Malassezia activates lipase which releases FFA which activate complement |
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What is another name for Morbihan's Disease?
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Lymphedematous Rosacea
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What clinical feature do you see in Morbihan's disease?
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Pitting edema of the central face, over time becoming irreversible hard non-pitting edema
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Name the 2 forms of Paget's Disease seen in the skin.
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1) Paget's disease of the breast
2) Extramammary Paget's disease |
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What type of carcinoma does Paget's disease of the breast represent?
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Intraepidermal extension of underlying intraductal breast carcinoma
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What type of carcinoma does extramammary Paget's represent?
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May be an extension of an underlying adenocarcinoma but commonly arises de novo
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Which 4 stains are positive in Paget's Disease?
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1) CEA
2) EMA 3) PAS 4) CAM 5.2 (low-molecular weight cytokeratins) |
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What stains can help differentiate Paget's from Melanoma and Bowen's disease?
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Melanoma: S100+, HMB-45+
Bowen's: CEA-, CK5/6+ Paget's: S100- |
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Superficial Pemphigus is also known as?
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Pemphigus Foliaceous
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What are the 3 histological features of PF?
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1) Subcorneal blister
2) Eosinophils 3) DIF+ for intracellular IgG, C3 |
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Seborrheic Dermatitis is associated with activation of which complement pathway?
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Alternative Complement Pathway
-Malassezia activates lipase which releases FFA which activate complement |
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What is another name for Morbihan's Disease?
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Lymphedematous Rosacea
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What clinical feature do you see in Morbihan's disease?
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Pitting edema of the central face, over time becoming irreversible hard non-pitting edema
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Name the 2 forms of Paget's Disease seen in the skin.
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1) Paget's disease of the breast
2) Extramammary Paget's disease |
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What type of carcinoma does Paget's disease of the breast represent?
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Intraepidermal extension of underlying intraductal breast carcinoma
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What type of carcinoma does extramammary Paget's represent?
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May be an extension of an underlying adenocarcinoma but commonly arises de novo
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Which 4 stains are positive in Paget's Disease?
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1) CEA
2) EMA 3) CK7 4) CK20 |
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What stains can help differentiate Paget's from Melanoma and Bowen's disease?
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Melanoma: S100+, HMB-45+
Bowen's: CEA-, CK5/6+ Paget's: S100- |
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Superficial Pemphigus is also known as?
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Pemphigus Foliaceous
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What are the 3 histological features of PF?
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1) Subcorneal blister
2) Eosinophils 3) DIF+ for intracellular IgG, C3 |
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Seborrheic Dermatitis is associated with activation of which complement pathway?
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Alternative Complement Pathway
-Malassezia activates lipase which releases FFA which activate complement |
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Pellagra is cause by deficiency of what?
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Niacin
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What are the 3 D's of Pellagra?
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1) Diarrhea
2) Dementia 3) Dermatitis (periorficial & around the neck) |
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What skin disorder is associated with a glucagon-secreting tumor of the pancreas?
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Necrolytic Migratory Erythema
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What is the earliest skin lesion of Scurvy?
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Violaceous perifollicular papules on the shins
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What hair findings will you see with Vitamin C deficiency?
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Corkscrew hairs
-break easily |
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What deficiency causes "Toad-like" skin?
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Vitamin A deficiency
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Phrynoderma is caused by excessive development of what?
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Excessive amounts of Keratin in hair follicles
-caused by vitamin A deficiency |
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Phrynoderma can look similar to what common skin lesion?
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Prurigo nodularis
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Multiple Hamartoma Syndrome is also known as what?
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Cowden's Syndrome
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What 3 skin lesions are seen in Cowden's Syndrome?
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1) Trichole-MOO-mas (Moo goes the Cow)
2) Palmoplantar keratoderma 3) Cobble-stoning of the oral mucosa |
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What gene defect is associated with Multiple Hamartoma Syndrome?
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PTEN
-tumor supressor gene |
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What gene defect is seen in Cowden's syndrome?
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PTEN
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Cowden's syndrome is associated with increased susceptibility of what 2 types of cancer?
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1) Breast
2) Thyroid |
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Multiple Tricholemmomas on the face is associated with what cancer syndrome?
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Cowden's Syndrome
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Acquired Ichthyosis is associated with what infectious pulmonary disease?
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Pulmonary TB
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What skin lesions are seen in Multiple Myeloma?
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Raccoon eyes
-atraumatic ecchymoses in a periorbital and perioral distribution |
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What AR condition is characterized by diffuse flat-topped warts?
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Epidermodysplasia Verruciformis (EDV)
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What HPV-type is associated with EDV?
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HPV-5
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50% of EDV pts have associated malignant change in what area of the skin?
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Sun-exposed skin
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Where is the split in SSSS?
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Intraepidermal split in the granular layer
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SSSS is associated with Staph Aureus phage group what?
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Phage group 2
-Types 71 & 55 |
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What 2 exotoxins are produced by S. aureus in SSSS?
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1) Exfoliatin A (ET-A)
2) Exofoliatin B (ET-B) |
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What is the antigen attacked in SSSS?
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Desmoglein 1
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Bacillary Angiomatosis is caused by what bacteria?
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Bartonella Henselae
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Bacillary Angiomatosis associated with lytic bone lesions is caused by what bacteria?
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Bartonella Quintana
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Painful red to purple papules on the skin that become systemic affecting the spleen, liver and bone is what disease?
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Bacillary Angiomatosis
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Sporotrichosis is caused by...
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Sporothrix Schenckii
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Sporothrix Schenckii is what type of fungus?
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Dimorphic fungus, living as a saprophyte on plants
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What histological finding can be seen in Sporotrichosis?
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Asteroid Bodies
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Asteroid bodies are pathomnemonic for what?
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Sarcoidosis
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A patient with Bowen's disease and punctate yellow papules on the palms and soles is being exposed to what?
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Arsenic
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Describe arsenical keratosis
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Palmoplantar keratosis, look like AK's and associated with Bowen's disease
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What does POEMS stand for?
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Polyneuropathy
Organomegaly Endocrinopathy Monoclonal gammopathy Skin changes |
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What is the term used to describe whitening of the proximal nail?
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Terry's Nails
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Terry's Nails are seen with what multisystemic disease?
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POEMS
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What is another name for Hobnail Hemagnioma?
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Targetoid Hemosiderotic Hemangioma
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What are the 2 characteristic clinical findings of a hobnail or targetoid hemosiderotic hemangioma?
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Solitary violaceous papule surrounded by a red ring or halo
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HHV-8 is known to cause what disease?
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Kaposi's Sarcoma
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What is another name for Follicular Mucinosis?
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Alopecia Mucinosa
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The hair loss in follicular mucinosis is caused by what?
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Mucin deposition in hair follicles and sebaceous glands.
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