|
1
|
(HPO:0000964)
|
Eczema |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
2
|
(HPO:0000972)
|
Palmoplantar hyperkeratosis |
|
|
|
|
41 / 7739
|
|
3
|
(HPO:0000982)
|
Palmoplantar keratoderma |
|
|
|
|
40 / 7739
|
|
4
|
(HPO:0007447)
|
Diffuse palmoplantar hyperkeratosis |
|
|
|
|
8 / 7739
|
|
5
|
(HPO:0010783)
|
Erythema |
Very frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
6
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
7
|
(HPO:0001231)
|
Abnormality of the fingernails |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
8
|
(HPO:0003212)
|
Increased IgE level |
|
|
|
|
13 / 7739
|
|
9
|
(HPO:0007559)
|
Localized epidermolytic hyperkeratosis |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Thick, waxy skin of palms and soles with well-defined erythematous border |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Hyperkeratosis on dorsal surface of fingers and toes (knuckle pads |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
in some patients) |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Palmoplantar epidermolytic hyperkeratosis along Blaschko lines (rare) |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Thickened granular layer of epidermis |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Large irregularly shaped keratohyalin granules |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Perinuclear vacuolization of keratinocytes |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Cytolysis of keratinocytes in spinous and granular layers |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Aggregated tonofilaments at cell surface |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0012740)
|
Papilloma |
Very frequent [Orphanet]
|
|
|
|
17 / 7739
|
|
20
|
(HPO:0001357)
|
Plagiocephaly |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
21
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|