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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