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44 Cards in this Set
- Front
- Back
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Epidermolysis Bullosa Simplex (EBS) is AD or AR disorder with mutations in which 2 keratins?
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AD
Keratin 5 and 14 |
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EBS results in bulla in what layer of keratinocytes?
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Basal Cell keratinocytes
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Name the 8 subtypes of Epidermolysis Bullosa Simplex.
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1) EBS: Weber-Cockayne
2) EBS: Generalized (Koebner) 3) Dowling-Meara 4) EBS with muscular dystrophy 5) EBS with pyloric atresia 6) EBS with mottle pigmentation 7) Autosomal recessive EBS 8) EBS Ogna Variant |
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This type of EBS results in palmoplantar bulla in the 1st-3rd decade of life.
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Weber-Cockayne
(webbed hands and feet) |
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Generalized bullae starting in infancy with mild mucosal involvement characterizes this type of EBS
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Generalized Koebner EBS
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Dowling-Meara EBS results in widespread bullae (some herpetiform) and what 3 additional symptoms?
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1) Significant mucous membrane and laryngeal/esphageal involvement
2) Nail dystrophy 3) Early death |
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Which 3 types of EBS are due to a mutation in Plectin?
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1) EBS with muscular dystrophy
2) EBS with pyloric atresia 3) EBS Ogna Variant |
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EBS with mottle pigmentation is due to a mutation in which keratin?
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Keratin 5 (think mottled palms-5)
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Autosomal recessive EBS is due to a mutation in which keratin?
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Keratin 14
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This form of EBS is due to a mutation in Plectin and results in generalized contusiform bruising.
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EBS Ogna Varient
(Ogna gets pushed around) |
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Junctional Epidermolysis Bullosa (JEB) is AR or AD disorder caused by mutations in what 2 proteins?
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AR caused by mutations in
1) Laminin 5 and 2) BPAg2 (BP180 or Collagen 17) |
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JEB causes blisters in what layer of the BMZ?
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Lamina Lucida
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Name the 6 subtypes of Junctional Epidermolysis Bullosa (JEB)
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1) Herlitz
2) Non-Herlitz (3 mutations) 3) JEB Localized 4) GABEB 5) JEB with Pyloric Atresia 6) JEB Inversa |
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Which 3 types of JEB are due to mutations in Laminin 5?
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1) Herlitz type
2) Non-Herlitz type 3) JEB Inversa |
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This form of JEB is due to a mutation in Laminin 5 and results in generalized bulla, non-healing perioral granulation tissue, nail dystrophy, tooth dysplasia, anemia, growth retardation, tracheobronchial infections and death by age 3 or 4.
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JEB Herlitz type
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Which type of JEB is due to mutation in Laminin 5 is fatal by age 3 or 4?
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JEB Herlitz type
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This form of JEB results in bulla the heal with atrophic scars, nail dystrophy and scarring alopecia.
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JEB Non-Herlitz type
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Patients with Non-Herlitz type JEB can expect what kind of life expectancy?
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Normal Lifespan
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Non-Herlitz JEB can be caused by mutations in what 3 proteins?
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1) Laminin 5
2) BP180 (BPAg2 or col 17) 3) b4 integrin |
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Which 3 forms of JEB are caused by mutations in BPAg 2 (aka BP180, collagen 17)?
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1) Non-Herlitz type JEB
2) Localized JEB 3) GABEB |
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Both generalized and localized JEB are caused by a mutation in what protein?
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BPAg2 (Collagen 17 or BP180)
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This type of JEB is characterized by extensive atrophy of the anterior lower legs
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Generalized Atrophic Benign Epidermolysis Bullosa (GABEB)
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JEB with pyloric atresia is due mutations of what protein?
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Either subunit of α6β4 integrin
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JEB inversa is characterized by what skin findings?
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Acral bulla
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Dystrophic Epidermolysis Bullosa is causes blisters in what level of the BMZ?
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Sub-Lamina Densa
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Dystrophic Epidermolysis Bullosa is is due to a mutation in what type of Collagen?
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Collagen 7
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What are the 7 types of Dominant dystrophic EB?
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1) Hyperplastic Cockayne-Touraine
2) Albopapuloid Pasini Variant 3) Bart's Syndrome 4) Transient bullous dermatosis of the newborn 5) Pretibial 6) Pruriginosa 7) With subcorneal cleavage (EB "simplex" superficialis) |
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What is another name for Recessive dystrophic EB?
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Hallopeau-Siemens
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Name the 3 forms of Recessive dystrophic EB
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1) Non-Hallopeau Siemens
2) Inversa 3) Centripetalis |
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Which form of dominant dystrophic EB results in congenital skin-less shins, and nail dystrophy?
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Bart's Syndrome
(Bart has no skin on his shins) |
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Which form of dominant dystrophic EB is transient ?
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Transient bullous dermatosis of the newborn
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Which form of dominant dystrophic EB is localized to the extremities resolving with milia and scarring?
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Hyperplastic Cockayne-Touraine
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Which form of dominant dystrophic EB results in widespread bulla, healing with hypopigmented scar-like white papules?
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Albopapuloid Pasini variant
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What are the 2 most distinctive findings in Recessive dystrophic EB (Hallopeau-Siemens) ?
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1) Mitten Deformity
2) Scars that develop into numerous SCC's |
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This form of Dystrophic EB results in generalized bulla that heal with chronic scars that develop into numerous SCC's, digital fusion with mitten deformity, flexion contractures, mucosal scarring, dysplastic teeth and death.
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Recessive Dystrophic EB (Hallopeau-Siemens)
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Epidermolytic Hyperkeratosis is AD hereditary bullous disorder caused by mutations in which 2 keratins?
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Keratin 1 and 10
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A baby born with bulla and erythroderma at birth which become generalized verrucal ichthyosis later has what AD dz?
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Epidermolytic Hyperkeratosis
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Ichthyosis Bullosa of Siemens is an AD blistering disorder caused by a mutation in what keratin?
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Keratin 2e
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A baby born with fragile blisters that later develops hyperkeratotic plaques on the elbows and knees has what AD blistering dz?
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Ichthyosis Bullosa of Siemens
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Hailey-Hailey disease is an AD acantholytic disorder caused by a mutation in what?
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Calcium ATPase 2C1
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This AD disease results in flexural erosions (axilla) and has an acantholytic "Dilapidated Brick Wall" appearance histologically.
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Hailey-Hailey disease
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Kindler Syndrome is AR disease caused by a mutation in what gene?
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KIND1 gene
(encodes Kindlin 1, which is expressed in basal keratinocytes, and attaches actin cytoskeleton to the ECM |
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This AR blistering disorder results in acral blistering in infancy, photosensitivity progressive poikiloderma, wrinkling (dorsal hands/feet), PPK, nail dystrophy, cavities, digital webbing and pseudoainhum.
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Kindler Syndrome
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The distinguishing features of this AR disorder are acral blistering in infancy, photosensitive poikiloderma, and wrinkling of dorsal hands and feet with digital webbing.
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Kindler Syndrome
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