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40 Cards in this Set
- Front
- Back
Unna-Thost PPK (Non-Epidermolytic) is AD and caused by a mutation in what keratin?
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Keratin 1
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Vorner PPK (Epidermolytic) is AD and caused by a mutation in what 2 keratins?
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Keratins 1 and 9
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Striated PPK (Brunauer-Fohs-Siemens) is AD and caused by a mutation in what 2 proteins?
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1) Desmoglein 1
2) Desmoplakin 1 |
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This AR is leads to malodorous transgradient PPK in a glove and stocking distribution.
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Mal de Meleda
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Mal de Meleda is AR and caused by a mutation in what gene?
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SLURP-1
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Howel-Evans Syndrome is an AD, focal, pressure-related, non-transgradient PPK caused by mutation in what gene?
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TOC gene
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This PPK syndrome is associated with esophageal cancer and oral leukoplakia
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Howel-Evans Syndrome
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Sclerotylosis (Huriez Syndrome) is AD and increased risk of what type of skin cancer?
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15% develop SCC's
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Which type of PPK is associated with increased risk of bowel cancer?
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Sclerotylosis (Huriez Syndrome)
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Which PPK syndrome is associated with sclerosis of the skin, nail hypoplasia and PPK?
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Sclerotylosis (Huriez Syndrome)
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Type 1, PPK with deafness is associated with a mutation in what?
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Connexin 26
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Type 2, PPK with deafness is associated with a mutation in what?
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MTTS1
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Which PPK is AD and associated with diffuse honeycombed PPK, pseudoainhum, star-fish shaped keratotoic plaques over joints and deafness
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Vohwinkel Syndrome
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Vohwinkel Syndrome is associated with a mutation in what gene?
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Connexin-26 (GJB2 gene)
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Starfish shaped plaques over the joints is associated with what PPK syndrome?
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Vohwinkel Syndrome
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This type of PPK is similar to classic Vohwinkel's but also has ichthyosis and no deafness.
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Vohwinkel variant PPK
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The Vohwinkel variant PPK is associated with what mutation
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Loricrin
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Naxos Syndrome is caused by a mutation in what protein?
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Plakoglobin
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This AR syndrome is characterized by PPK, Wooly Hair, and Arrhythmogenic Cardiomyopathy.
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Naxos Syndrome
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What AR syndrome is PPK with dilated left-ventricular cardiomyopathy and wooly hair?
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Carvajal Syndrome
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What mutation is associated with Carvajal Syndrome?
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Desmoplakin
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What AR syndrome? PPK, Cystic eyelids, Hypodontia, Eccrine Tumors (Eccrine Syringofibradenoma)
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Schopf-Schulz-Passarge Syndrome
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Bart-Pumphrey Syndrome is caused by a mutation in what?
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Connexin 26
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What AD syndrome? PPK with Knuckle Pads, Leukonychia, and deafness
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Bart-Pumphrey Syndrome
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What 3 syndromes are have PPK with deafness and caused by a mutation in Connexin 26?
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1) Vohwinkel Syndrome
2) PPK with Deafness 3) Bart-Pumphrey Syndrome |
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What type of inheritance is seen with Olmsted syndrome?
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AD or XLR
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Mutilating PPK with periorficial plaques?
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Olmsted Syndrome
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This AR syndrome is caused by a mutation in Cathepsin C
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Papillon-Lefevre Syndrome
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Papillon-Lefevre Syndrome causes sharply demarcated tansgradient, stocking-glove PPK with periodontitis with tooth loss and what brain finding?
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Asymptomatic dural calcification and choroids attachements
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What 2 syndromes are caused by mutation in Cathepsin C?
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1) Papillon-Lefevre Syndrome
2) Haim-Munk Syndrome |
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What AR syndrome?
1) PPK 2) Periodontitis 3) Acroosteolysis 4) Onychogryphosis |
Haim-Munk Syndrome
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Haim-Munk Syndrome is caused by a mutation in what?
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Cathepsin C
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Erythrokeratodermia Variabilis is an AD PPK and associated with mutations in what 2 gap junctions?
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Connexin 31 and 30.3
(Encoded by GJB3 and GJB4 genes) |
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What dz causes erythematous migratory patches, fixed hyperkeratotic plaques and PPK?
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Erythrokeratodermia Variabilis
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This AD cuauses hyperkeratotic plaques and PPK
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Symmetric progressive erythrokeratodermia
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The Vohwinkel varient PPK and what other syndrome is caused by a mutation in Loricrin?
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Symmetric Progressive Erythrokeratodermia
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What AR syndrome seen with deficient hepatic tyrosine aminotransferases?
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Richner-Hanhart Syndrome (Tyrosenemia type 2)
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Richner-Hanhart Syndrome (Tyrosenemia type 2) is characterized by painful PPK and what other 2 eye findings?
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1) Pseudoherpetic keratitis
2) Blindness |
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What is the tx for Richner-Hanhart Syndrome (Tyrosenemia type 2)?
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Low tyrosine/phenylalanine diet
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This syndrome causes Nevus unius lateris, Capillary malformations, Cafe au lait macules, MRDD with seizures, Deafness, Hemiparesis, hemihypertrophy of limbs, kyphoscoliosis and rare solid tumors
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Epidermal Nevus Syndrome
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