Bafl Exam 3: Palmoplantar Keratodermas

Front 1

Diffuse hereditary keratoderma: subtypes

Mutations?

Back 1

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)

Front 2

Diffuse honeycombed PPK and starfish keratosis?

Back 2

Vohwinkel Syndrome

twinkle winkle little starfish

Front 3

Mutation in Vohwinkel syndrome?

Back 3

Connexin 26--> a/w deafness

(GJB2)

Loricrin--> a/w ichthyosis

Connexin 26 same as KID and Bart Pumphrey

Front 4

Mutation in Bart Pumphrey syndrome?

Back 4

Connexin26

(GJB2)

same as vohwinkel and KID

Front 5

Differences between Bart Pumphery and Vohwinkel?

Back 5

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

Front 6

Adermatiglyphia differential?

Back 6

naegeli-francheschetti-jadassohn syndrome

dermatopathia pigmentosa reticularis

dyskeratosis congenita

kindler syndrome

ectodermal dysplasia-Clouston

huriez syndrome

Front 7

Defect in Clouston? Presentation?

Back 7

Cloustin (hidrotic ectodermal dysplasia)

Connexin 30 (GJB6)

Will see a koda of: PPK with transgrediens, nail dystrophy, alopecia

Front 8

Mutation in Olmstead syndrome? Presentation?

Back 8

Olmstead-- mutilating PPK with periorificial plaques

plaques around mouth, so can't say OLMMMMMM

TRVP3 (capsaicin receptor)

Front 9

Mutation with Papillon-Lefevre Syndrome? Presentation?

Back 9

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

Front 10

Mutation with Haim-Munk Syndrome? Presentation?

Back 10

Pepe Le Pew's (Papillon Lefevre Syndrome) evil cousin, Haim Munk!!!

AR mutation in Cathepsin C

Malodorous PPK, destructive periodontitis, arachnodactyly and acro osteolysis

Front 11

PPK with left sided cardiomyopathy?

PPK with right sided cardiomyopathy?

Back 11

Left sided --> Carvajal syndrome

Right sided --> Naxos syndrome

Read Left to Right, C to N

Front 12

Mutation in Naxos Disease?

Back 12

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)

Front 13

Mutation in Carvajal syndrome? Presentation?

Back 13

Carvajal- PPK with wooly hair and dilated cardiomyopathy

AR defect in desmoplakin

LV> RV cardiomyopathy

Front 14

Mutation in focal palmoplantar keratoderma?

Back 14

AD defect in Dsg-1, keratoderma at pressure points

Front 15

Mutation in Howell Evans Syndrome? Presentation?

Back 15

TOC/RHBDF2

associated wtih PPK over pressure points, xerosis, DP, oral leukokeratosis, ESOPHAGEAL CANCER

Howell Evals--> HOWL --> esophagus

Front 16

Richner-Hanhard syndrome is a mutation in what? Presentation?

Back 16

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

Front 17

Treatments in Richner Hanhard syndrome?

Back 17

Richner Hanhard --> my HAND hurts! TAT hurts!

mutation in TAT (tyrosine aminotransferase, deficiency) --> diet restricted in tyrosine and phenylalanine

Front 18

Mutations in Pachyonychia Congenita Type 1? 2? How do we differentiate between the two?

Back 18

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

Front 19

Punctate PPK, keratosis punctata palmaris et plantaris... mutation?

Back 19

AAGAB

Front 20

Acquired PPKs include:

1. Climeracticum

2. Aquagenic

3. Paraneoplastic

Presentations?

Back 20

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

Front 21

Nail finding in Arsenic poisening?

Back 21

Mees nails

Front 22

Tripe palms are associated with?

Back 22

lung carcinoma

Front 23

Tripe palms and acanthosis nigricans together are associated with?

Back 23

gastric carcinoma

Front 24

Mutation in Darier's disease? Presentation?

Back 24

ATP2A2 (SERCA2 Ca ATPase)

ichthyosis in a seborrheic distribution, worse in the summer, peaks at puberty, **cobble stoning of mucous membranes

Front 25

Medication that can exacerbate Darier's?

Back 25

lithium

Front 26

Infectious complications of Darier's

Back 26

anything that can happen on broken skin

kaposi's varicelliform eruption

HPV

bacterial

Front 27

Dyskeratosis on histology ddx?

Back 27

Darier's (corp ronds, grains)

Warty D

Grover's

Front 28

Inheritance and gene defect in Hailey-Hailey?

Back 28

ATP2C1 (impairs Ca signaling)

AD (2c1 is 2c them all, dominant)