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Table 1 Clinical phenotypes of study participants of family 1 and 2

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

 

Family 1

Family 2

Individuals

IV:7

IV:8

IV:12

V:2

V:4

V:8

V:9

III:2

III:5

III:6

IV:1

IV:2

Age

27 years

22 years

45 Years

16 years

11 years

15 years

13 years

28 years

36 years

40 years

12 years

8 years

Sex

F

F

F

M

M

F

F

M

F

F

F

F

Disease onset

1 year

1 year

6 months

6 months

1 year

3 months

6 months

By birth

By birth

By birth

By birth

By birth

Inheritance

Autosomal Recessive

Autosomal Dominant

Diffuse PPK

+

+

+

+

+

+

+

+

+

+

+

+

Scale colour

Yellowish

Yellowish

Yellowish

Yellowish

Yellowish

Yellowish

Yellowish

–

–

–

–

–

Cuff like margins

++

++

++

++

++

++

++

–

–

–

–

–

Pseudoainhum

–

–

–

–

–

–

–

–

–

–

–

–

Cracked Hypekeratosis

–

–

–

–

–

–

–

++

+++

+

+

+

Deafness

–

–

–

–

–

–

–

Mild

Complete

Mild

Mild

Mild

Speech abnormality

–

–

–

–

–

–

–

Mild

Complete

–

–

–

Diffuse hyperkeratosis

–

–

–

–

–

–

–

Severe

Severe

Mild

Mild

Mild

Teeth, hairs and

nails

Normal

Normal

Normal

Normal

Normal

Normal

Normal

Normal

Normal

Normal

Normal

Normal

Finger deformity

–

++

++

+

–

–

–

–

+

+

–

–

Hyperhidrosis

+

+

+

+

+

+

+

–

–

–

–

–

Cardiomyopathy

–

–

–

–

–

–

–

–

–

–

–

–

  1. + = presence of feature, − -absence of feature, +++ = present in severe form