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Table 2 Differential diagnosis of PPKs

From: Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families

Name Disease Type Clinical Features Histopathology Gene
Mal de Meleda Diffuse PPK 1. Soon after birth
2.Severe diffuse yellow and waxy thick hyperkeratosis in a ‘glove-and-socks’ distribution
3.Sharp demarcation
4. Autosomal Recessive
1.Nonepidermolytic pattern
2.Increased stratum lucidum
3.Prominent perivascular inflammatory infiltrate
SLURP1
Unna-Thost 1.Soon after birth to early childhood
2.Diffuse yellowish thick hyperkeratosis with sharp demarcation at the volar border
3. Autosomal Dominant
1.Epidermolytic pattern
(perinuclear vacuolization and granular degeneration of keratinocytes in the spinous and granular layer)
KRT1, KRT9
Greither Disease 1.Soon after birth to childhood/adolescence
2. Diffuse red/yellow moderate to severe hyperkeratosis
3. Autosomal Dominant
1.Epidermolytic pattern KRT1
Nagashima PPK 1.Mostly within infancy
2. Diffuse mild reddish hyperkeratosis, red rim; white spongy appearance after water exposure
3. Autosomal Dominant
1.Nonepidermolytic pattern SERPINB7
Striate PPK
Striate Type I PPK Focal PPK 1.Childhood to adolescence
2. Linear hyperkeratotic distribution on palms and palmar surface of the fingers
2.Focal hyperkeratosis at trauma-prone sites on soles
3.Autosomal Dominant
1.Hyperkeratosis
2. Widening of intercellular spaces in the spinous and granular layer
DSG1
Striate Type II PPK 1.Childhood to early adulthood
2. Linear hyperkeratotic distribution on palms and palmar aspect of fingers
3.Focal hyperkeratosis at trauma-prone sites on soles
4. Autosomal Dominant
1.Hyperkeratosis
2.Widening of intercellular paces and
condensation of the keratin filament network in suprabasal cell layers
DSP
Punctate PPK
Punctate PPK Type IA Focal PPK 1.Late childhood to adulthood
2.Multiple hyperkeratotic papules with central indentation
3.Worsening of papules upon exposure to water
4. Autosomal Dominant
1.Hyperkeratosis and hypergranulosis
with central epidermal depression
AAGAB
Punctate PPK Type IB 1.Late childhood to adulthood
2.Multiple hyperkeratotic papules with central indentation
3. Autosomal Dominant
1.Hyperkeratosis and hypergranulosis
with central epidermal depression
COL14A1
Punctate PPK Type II 1.Puberty to early adulthood
2.Multiple spiny keratosispits with keratotic plugs (late onset)
4. Autosomal Dominant
1. Columns of parakeratotic corneocytes (cornoid lamellae)
2.Superficial epidermal depression where the granular layer is reduced or absent
Unknown
Punctate PPK Type III 1.Adolescence to adulthood
2.Translucent hyperkeratotic papules, sometimes umbilicated, on lateral aspects of palms and soles
3. Autosomal Dominant
1.Hyperkeratosis and hypergranulosis
2.Decreased number of fragmented elastic fibres
Unknown
  1. PPK, Palmoplantar keratoderma; SLURP1, Secreted lymphocyte antigen 6 (LY6)/urokinase-type plasminogen activator receptor (uPAR)-related protein-1; KRT, Keratin;SERPIN7, serpin peptidase inhibitor, clade B (ovalbumin), member 7; DSG1, Desmoglein1; DSP, Desmoplakin;AAGAB, Alpha- and gamma-adaptin-binding protein p34;COL14A1, Collagen XIV