Palmoplantar Keratoderma Flashcards
(35 cards)
Name this sign
Pseudoainhum
= constriction band around the finger
= can lead to autoamputation
Eponym for and Gene involved in Diffuse Epidermlytic Palmoplantar Keratoderma
Eponym: **Vorne - Unna - Thost **
Gene: Keratin 9 > Keratin 1
NB: Epidermolytic Ichythosis affects Keratin 1 (has PPKD) and keratin 10
List the Non-syndromic, diffuse non-epidermolytic palmoplantar keratodermas? and the ass gene?
Bothnia = AQP5
Kimonis = Keratin 1
Nagashima = SERPINB7 / SERPINA12
Mal de Meleda = SLURP 1
Describe
Diffuse PPKD
Thick waxy - yellow - skin coloured plaque covering the palmer surface
Sharply demarcated erythematous border
No transgradiens
Normal appearing nails (from this view) - with no subungal hyperkertosis
No fissures
No pustules
No maceration or crusting
Describe
Diffuse PPKD
Thick, waxy yellow - skin coloured plaque affecting the plantar surface of the foot
Relative sparing of the arch
Sharply dermacted erythematous border
No fissuring
No maceration or erosions
No subungal hyperkeratosis - other nail changes cannot be visulaised
No transgradiens visualised in this image
Describe the histo features in A and B
A: Epermolytic = pale cells in the epidermis, hyperkeratosis, intracytoplasmic eosinophillic granules
B: No epidermolytic changes, ortho-hyperkeratosis, acanthosis
What is Keratolytic Winter Erythema?
AD disorder of cornification
Cathespin B (CTSB) gene affected
Characterised by:
- recurrent erythema
- centrifugal peeling on the palms / soles / occasionally the extermities
- rarely elsewhere
Typically occurs in the winter
Describe
What is the diagnosis?
What are the associated features?
Leukonychia
Keratosis over the knuckle pads of the PIP joints and MCP Joints and DIP joints.
Seen in Bart Pumphrey Syndrome
Ass features
- Sensorineural hearing loss
- honeycomb like PPKD
What are the feature of Vohwinkel syndrome?
**Pitted and stippled honeycomb like **diffuse palmoplantar keratoderma
Pseudoainhum - can lead to autoamputation
Stellate (or starfish) keratoses on the knuckles
Sensorineural hearing loss
Preferred Dx? Name the gene, inheritance and ass features.
Vohwinkels PPKD
Gene = Connexin 26
Inheritance = AD
Onset in infancy
Diffuse PPKD with transgradiens
ass with sensorineural hearing loss
+ stellate (starfish like) keratosis (knuckles and dorsal surfaces)
+ Pseudoainhum
+/- nail changes
+/- Alopecia
+/- Ichythosiform dermatoses
+/- myopahty and spastic paraplegia
List conditions with diffuse PPKD and deafness?
Vohwinkles
- with pseudainhum, starfish keratoses
Bart Pumphrey
- with leukonychia, knuckle pads
- less mutilating
Mitochondrial disease
What is your preferred Dx? and DDx?
List the key features of this condition?
Naxos Syndrome
Main DDx is Carvajal syndrome which features a striate/areata PPK + woolly hair + CM
- Woolly hair (part of the ectodermal dysplasia)
- Cardiac arrhythmias
- Cardiomyopathy with sudden death
- Diffuse NEPPK
Some can have focal or striate involvement
What is Schop-Schulz- Passarge?
AR condition
Mutation in WNT10A
Clinical:
- Apocrine hidrocystomas
- Hypodontia
- Hypothrichosis
- Nail dystrophy
- SCC
Triad of wedge shaped nail dystrophy, focal PPKD, plantar pain ?
Pachyonychia congenita
List causes of acquired diffuse PPKD
Tinea
Eczema
ACD
Psoriasis
Lichen Planus
Keratoderma Climactericum
AICTD - SLE, DM
PRP
Reiters (keratoderma blenorrhagicum + Cicinate balanitis / vulvitis + Arthritis, urethritis, conjunctivitis)
Acanthosis nigricans - Tripe Palms
Norweigan (crusted) Scabies
Syphillus
MF / Sezary
Basex syndrome
Causes of acquired Focal Keratoderma
Multiple Callosities
Circumscribed palmar hypokeratosis
Lichen Planus
Lupus Erythematosus (DLE)
Bowens
- Arsenical keratoses
Warts
Drugs
- FLu vaccinde, lithium, iodine, CCB, BRAF, TNFi
Reiters
Infection - syphillis, yaws
psoriasis
porokeratosis
Spiny
What is Naxos disease?
AR condition
Gene: JUP (encodes Plakoglobin)
Diffuse Keratoderma (1st year of life)
Wooly hair (evident at birth)
Life threatening right ventricular cardiomyopathy - arrythmia, heart failure or sudden death
NB: or ALopceia in biallelic mutations in JUP
NB: keratoderma can be s
What is Carvajal syndrome?
Gene: Desmoplakin Gene (DSP)
PPKD striate or areata type (during infancy)
Wooly hair (present at birth)
Cardiomyopathy (left, right or both ventricles)
AD form: ass with Leukonychia and oligodontia
AR form: skin fragility, acnatholysis, nail dystrophy and enamel defects
What is Olmsted syndrome?
AD»_space; AR
Gene: TRPV3
XLR
Gene: MBTPS2
Sharply defined Diffuse PPKD
+/- Flexion contractures
+/- pseduainhum
Perioral and perianal warty hyperkeratosis
Perifollicular and linear keratosis in the flexures
+/- ALopecia
+/- Nail dystrophy
+/- periodontal disease or oral keratoses
+/- corneal dysplasia
+/- Erythromelalgia
+/- Deafness
+/- joint laxity
What is cloustons syndrome?
AD
Elctodermal dysplasia
Gene: GJB6 (gap junction B6)
endcodes: Connexin 30
Characterised by:
- Diffuse PPKD
- **Hypotrichosis **
- Nail dystrophy (thickened, short nail plates, easily shed, dystrophic)
What is Huriez syndrome?
AD condition
Gene: SMARCAD1
Scleroatrophy of the hands
Diffuse PPKD (parchment like skin)
Hypoplastic nail changes
NB: HIgh risk of developing SCC >100x and early mets
DDx for syndromic diffuse PPKD + Scleroatrophy?
“HUKS”
**Huriez **
KLICK = keratosis linearis ichthyosis congeita - sclerosing k eratoderma
PPKD with Sex reversal and SCC
NB: all have a high risk of developing SCC
DDx of sydnromic Diffuse Honeycomb PPKD with hearing loss
“HUMB”
Hearing Loss
U = Vonwhinkels
M = Mitochondiral
B = Bart Pumphreys
Dx of Sydromic Diffuse Honeycomb PPKD without Hearing loss?
Loricrin PPKD
