Diffuse Palmoplantar Keratodermas
Hereditary Palmoplantar Keratodermas are a group of inherited disorders characterized by abnormal thickening of the palms and soles due to mutations in structural or regulatory epidermal proteins. Unna Thost palmoplantar keratoderma is caused by mutation in KRT1 encoding keratin 1 and presents with diffuse well demarcated yellow palmoplantar keratoderma and hyperhidrosis and is nonepidermolytic on histology. Vorner palmoplantar keratoderma results from mutations in KRT1 or KRT9 encoding keratin 1 and keratin 9 and is clinically similar to Unna Thost but demonstrates epidermolytic hyperkeratosis on histopathology. Mal de Meleda is caused by SLURP1 mutation and presents with diffuse erythematous transgrediens palmoplantar keratoderma that extends beyond the palms and soles, often with malodor, secondary infection, and nail dystrophy. Vohwinkel syndrome or mutilating palmoplantar keratoderma has 2 genetic forms including loricrin mutation associated with ichthyosis and GJB2 mutation encoding connexin 26 associated with sensorineural deafness. Shared features include transgrediens involvement, honeycomb patterned keratoderma, pseudoainhum of the 5th digit, and starfish keratoses on extensor surfaces. Papillon Lefevre syndrome is due to CTSC mutation encoding cathepsin C and presents with transgrediens palmoplantar keratoderma, severe periodontitis with premature tooth loss, and dural calcifications. Naxos disease is caused by plakoglobin mutation and presents with diffuse palmoplantar keratoderma, woolly hair, right ventricular cardiomyopathy, and arrhythmias. Carvajal syndrome is due to desmoplakin mutation and presents with striate palmoplantar keratoderma, woolly hair, and dilated left ventricular cardiomyopathy.
Unna Thost PPK (Non Epidermolytic Diffuse PPK)
- #1 / Numero Una = Unna Thost
- Go Cart With 1 = KRT1 mutation
- Keratin 1 = Gene product
- Yellow Finger Paint On Palms = Diffuse well demarcated yellow PPK
- Sweaty Hands = Hyperhidrosis
- Clinical Pattern = Symmetric diffuse palmoplantar hyperkeratosis
Vorner PPK (Epidermolytic Diffuse PPK)
- Crash Into Corner = Vorner
- #1 Cart = KRT1 mutation
- Vine Shaped Like 9 = KRT9 mutation
- Keratin 9 = Gene product
- Hole In Wall = Epidermolytic PPK
- Histology = Epidermolytic hyperkeratosis
- Clinical Appearance = Similar to Unna Thost diffuse yellow PPK
Mal De Meleda
- Malodorous Teacher = Mal de Meleda
- SLURPing Drink = SLURP1 mutation
- Canvas Gradient = Transgrediens PPK
- Red Gradient Hue = Erythematous PPK
- Strong Odor = Secondary infection
- Damaged Nail Shaped Palate = Nail dystrophy
- Clinical Pattern = Diffuse erythematous transgrediens palmoplantar hyperkeratosis
Vohwinkel Syndrome (Mutilating PPK)
- Vo Winking Child = Vohwinkel
- Toy Fish = Ichthyosis
- Fish Lure = LOR mutation
- Loricrin = Gene product
- Two Blocks With Gap = GJB2 mutation
- 26 Blocks = Connexin 26
- Broken Headphones = Sensorineural deafness
- Gradient Nearby = Transgrediens PPK
- Honeycomb = Honeycomb palmar hyperkeratosis
- Glove = Mutilating PPK
- Tied 5th Finger = Pseudoainhum
- Starfish = Starfish keratoses
Papillon Lefevre Syndrome
- GrandPAPI Painting LEAF = Papillon Lefevre
- Cat = Cathepsin C mutation
- Gradient = Transgrediens PPK
- Dirty Dentures = Severe periodontitis and gingivitis
- Tooth Loss = Premature exfoliation
- White Studded Hat = Dural calcifications
- Clinical Pattern = Diffuse transgrediens PPK with early onset periodontitis
Naxos Disease
- Axe = Naxos
- Curly Hair = Woolly hair
- Torn Right Heart Pillow = Right ventricular cardiomyopathy
- Vent Next To Heart = Ventricle involvement
- Rhythm Marks = Arrhythmias
- Plank = Plakoglobin mutation
- Clinical Triad = Diffuse PPK woolly hair and ARVC
Carvajal Syndrome (Focal/Striate PPK)
- Desmoplakin = mutated protein
- Striped shirt = striate PPK
- Mirror = LEFT ventricular cardiomyopathy (opposite of Naxos)
- Curly hair = woolly hair
- Pattern = focal/striate palmoplantar hyperkeratosis + dilated LV cardiomyopathy