Diffuse Non-epidermolytic Palmoplantar Keratoderma
- Heterogeneous group
- Multiple associated gene mutations described: aquaporin 5, keratin 1, serine peptidase inhibitor, clade B member 7 SERPINB7, secreted leukocyte antigen-6/urokinase-type plasminogen activator related protein 1 SLURP1
- Gene mutations lead respectively to:
- increased keratinocyte water retention
- Altered skin protease(s)
- Altered epidermal differentiation
- Comparable to epidermolytic palmoplantar keratoderma
- Variable hyperkeratosis, hyperhidrosis
- Dermatophyte infections and pitted keratolysis
- Mal de Meleda
- early progressive transgredient hyperkeratosis leads to restricted hand range of motion, hyperhidrotic maceration, malodor, fissures
- pseudoainhum, koilonychia, subungual hyperkeratosis, angular cheilitis
- melanoma, Bowen disease
Pathology:
- Orthohyperkeratosis, hypergranulosis / normogranulosis, acanthosis
- May also see mild lymphocytic infiltrate (perivascular)
- Rule out dermatophyte infection with Periodic Acid Schiff staining
- papillomatosis in Mal de Meleda
Differential:
- Exfoliative ichthyosis
- Aquagenic palmoplantar keratoderma
- More potent anti-keratolytics (5-10% salicylic acid)
- Mechanical debridement
- Low-dose acitretin (0.2–0.5 mg / kg daily)
- Oral erythromycin and topical tacrolimus
- Anti-fungals / antibacterials as needed for superinfection
- Skin excision and split-thickness skin graft (to improve ability to perform activities of daily living)