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 |