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28 Cards in this Set
- Front
- Back
Diffuse hereditary keratoderma: subtypes
Mutations? |
1. Unna Thost type (U-->n for NONerpidermolytic PPK)- Unna/Uno, K1
2. Vorner type (epidermolytic PPK)- vorner, neiner, K1, 9
3. Sybert- mutation in K1
4. Mal de Melda- SLURP-1 (Ly6/uPAR) |
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Diffuse honeycombed PPK and starfish keratosis? |
Vohwinkel Syndrome
twinkle winkle little starfish |
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Mutation in Vohwinkel syndrome? |
Connexin 26--> a/w deafness (GJB2)
Loricrin--> a/w ichthyosis
Connexin 26 same as KID and Bart Pumphrey |
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Mutation in Bart Pumphrey syndrome? |
Connexin26 (GJB2)
same as vohwinkel and KID |
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Differences between Bart Pumphery and Vohwinkel? |
Both are a mutation in Connexin 26 (GJB2)
Vohwinkel- diffuse honeycomb PPK, starfish keratoses, scarring alopecia, deafness
Bart Pumphery- PPK with pebbled surface, knuckle pads, leukonychia, deafness |
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Adermatiglyphia differential? |
naegeli-francheschetti-jadassohn syndrome dermatopathia pigmentosa reticularis dyskeratosis congenita kindler syndrome ectodermal dysplasia-Clouston huriez syndrome |
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Defect in Clouston? Presentation? |
Cloustin (hidrotic ectodermal dysplasia)
Connexin 30 (GJB6)
Will see a koda of: PPK with transgrediens, nail dystrophy, alopecia |
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Mutation in Olmstead syndrome? Presentation? |
Olmstead-- mutilating PPK with periorificial plaques
plaques around mouth, so can't say OLMMMMMM
TRVP3 (capsaicin receptor) |
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Mutation with Papillon-Lefevre Syndrome? Presentation? |
Think of Pepe Le Pew! --> stinky and no teeth!!
AR mutation in Cathepsin C (same as Haim Munk)
Malodorous PPK and destructive periodontitis wtih premature loss of teeth
Don't forget about Pepe Le Pew's (Papillon Lefevre Syndrome) evil cousin, Haim Munk!!! --> malodorous, peridontitis, arachnodactyly and acro osteolysis
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Mutation with Haim-Munk Syndrome? Presentation? |
Pepe Le Pew's (Papillon Lefevre Syndrome) evil cousin, Haim Munk!!!
AR mutation in Cathepsin C
Malodorous PPK, destructive periodontitis, arachnodactyly and acro osteolysis |
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PPK with left sided cardiomyopathy?
PPK with right sided cardiomyopathy? |
Left sided --> Carvajal syndrome
Right sided --> Naxos syndrome
Read Left to Right, C to N |
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Mutation in Naxos Disease? |
AR mutation in plakoglobin
(Naxos is an island off of Greece, it's on the GLOBE)
armadillo protein, found in both desmosomes, adherens junctions, and cardiac myocytes (thats why it has right sided cardiomyopathy) |
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Mutation in Carvajal syndrome? Presentation? |
Carvajal- PPK with wooly hair and dilated cardiomyopathy
AR defect in desmoplakin
LV> RV cardiomyopathy |
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Mutation in focal palmoplantar keratoderma? |
AD defect in Dsg-1, keratoderma at pressure points |
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Mutation in Howell Evans Syndrome? Presentation? |
TOC/RHBDF2
associated wtih PPK over pressure points, xerosis, DP, oral leukokeratosis, ESOPHAGEAL CANCER
Howell Evals--> HOWL --> esophagus |
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Richner-Hanhard syndrome is a mutation in what? Presentation? |
Richner-Hanhard --> my HAND hurts! TAT hurts!
mutation in TAT (tyrosine aminotransferase deficiency)
will have painful keratoses at pressure points, tyrosine crystals on slit lamp |
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Treatments in Richner Hanhard syndrome? |
Richner Hanhard --> my HAND hurts! TAT hurts!
mutation in TAT (tyrosine aminotransferase, deficiency) --> diet restricted in tyrosine and phenylalanine |
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Mutations in Pachyonychia Congenita Type 1? 2? How do we differentiate between the two? |
PC1: AD defect in Keratin 6a/16 --> 1 tongue (oral leukokeratosis), subungual hyperkeratosis
PC2: AD defect in Keratin 6b/17 --> 2 teeth (natal teeth), pili torti, steatocystoma multiplex, EICs, milder PPK |
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Punctate PPK, keratosis punctata palmaris et plantaris... mutation? |
AAGAB |
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Acquired PPKs include:
1. Climeracticum
2. Aquagenic
3. Paraneoplastic
Presentations? |
1. Climeracticum- pressure points and heels of women, iatrogenic s/p oopherectomy
2. Aquagenic- thickened, white macerated pebbly changes minutes after immersion in water (40-80% of patients have CF or are carriers)
3. Paraneoplastic- Acrokeratosis paraneoplastica (Bazex) --> upper aerodigestive |
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Nail finding in Arsenic poisening? |
Mees nails |
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Tripe palms are associated with? |
lung carcinoma |
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Tripe palms and acanthosis nigricans together are associated with? |
gastric carcinoma |
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Mutation in Darier's disease? Presentation? |
ATP2A2 (SERCA2 Ca ATPase)
ichthyosis in a seborrheic distribution, worse in the summer, peaks at puberty, **cobble stoning of mucous membranes |
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Medication that can exacerbate Darier's? |
lithium |
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Infectious complications of Darier's |
anything that can happen on broken skin
kaposi's varicelliform eruption HPV bacterial |
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Dyskeratosis on histology ddx? |
Darier's (corp ronds, grains) Warty D Grover's |
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Inheritance and gene defect in Hailey-Hailey? |
ATP2C1 (impairs Ca signaling)
AD (2c1 is 2c them all, dominant) |