Type of diffuse PPK | Mode of inheritance | Causative genes | Pathologic findings | Manifestation of PPK | Transgrediens | Hyperhidrosis | Whitish change upon water exposure | Development on other areas | Spontaneous amputation |
Vörner (Unna-Thost) | AD | KRT1, KRT9 | Epidermolytic hyperkeratosis | Thick hyperkeratosis | – | – | – | – | – |
Diffuse PPK with DSG1 mutations | AD | DSG1 | Enlarged intercellular spaces and partial separation of keratinocytes | Thick hyperkeratosis | – | Not described | Not described | Mild onycholysis with yellowish discoloration | – |
Nagashima | AR | SERPINB7 | Nonepidermolytic hyperkeratosis | Mild hyperkeratosis with redness | + | + | + | Knees, elbows, and Achilles tendon area | – |
Diffuse PPK with SERPINA12 mutations | AR | SERPINA12 | Nonepidermolytic hyperkeratosis | Mild hyperkeratosis with redness | + | Not described | Symptoms are worsened by water exposure | Achilles tendon area and groin area | – |
Bothnia | AD | AQP5 | Nonepidermolytic hyperkeratosis | Mild to thick hyperkeratosis | + | + | + | – | – |
Greither | AD | KRT1 | Nonepidermolytic hyperkeratosis | Thick hyperkeratosis | + | + | – | Elbows, knees, flexural areas, and Achilles tendon | + |
Sybert | AD | Unknown | Nonepidermolytic hyperkeratosis | Thick hyperkeratosis | + | Not described | – | Natal cleft, groin, elbows, knees, posterior aspects of forearms, and anterior aspects of legs | + |
Mal de Meleda | AR | SLURP1 | Nonepidermolytic hyperkeratosis | Severe hyperkeratosis | + | + | – | Knees and elbows, perioral erythema, and periorbital erythema | Occasionally |
Gamborg-Nielsen | AR | SLURP1 | Nonepidermolytic hyperkeratosis | Thick hyperkeratosis | + (1 of 4) | Not described | + (1 of 15) | Only knuckle pads on the dorsa of the fingers | Not described |
Acral keratoderma | AR | Unknown | Nonepidermolytic hyperkeratosis | Thick, diffuse, and striate hyperkeratosis | + | Not described | – | Linear hyperkeratotic lesions over knees, elbows, ankles, and Achilles tendon area | + |
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