|
1
|
(HPO:0200037)
|
Skin vesicle |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
2
|
(HPO:0000963)
|
Thin skin |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
3
|
(HPO:0000989)
|
Pruritus |
Very frequent [Orphanet]
|
|
|
|
111 / 7739
|
|
4
|
(HPO:0001597)
|
Abnormality of the nail |
Frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
5
|
(HPO:0001056)
|
Milia |
|
|
|
|
24 / 7739
|
|
6
|
(HPO:0000987)
|
Atypical scarring of skin |
Frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
7
|
(HPO:0001030)
|
Fragile skin |
|
|
|
|
25 / 7739
|
|
8
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
9
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
|
10
|
(HPO:0100725)
|
Lichenification |
Frequent [Orphanet]
|
|
|
|
14 / 7739
|
|
11
|
(OMIM)
|
Dystrophic epidermolysis bullosa |
|
|
|
|
6 / 7739
|
|
12
|
(OMIM)
|
Blistering, recurrent |
|
|
|
|
5 / 7739
|
|
13
|
(OMIM)
|
Erosions |
|
|
|
|
5 / 7739
|
|
14
|
(OMIM)
|
Pruritis, intense |
|
|
|
|
1 / 7739
|
|
15
|
(MedDRA:10037083)
|
Prurigo |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Nodular lesions |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Lichenified lesions |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Hypertrophic scarring |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Albopapuloid lesions may occur |
|
|
|
|
4 / 7739
|
|
20
|
(OMIM)
|
Sublamina densa level of tissue separation beneath basal membrane |
|
|
|
|
5 / 7739
|
|
21
|
(OMIM)
|
Decreased number of anchoring fibrils at dermal-epidermal junction |
|
|
|
|
3 / 7739
|
|
22
|
(OMIM)
|
Hypotrophic anchoring fibrils |
|
|
|
|
5 / 7739
|
|
23
|
(OMIM)
|
Decreased staining for collagen VII |
|
|
|
|
3 / 7739
|
|
24
|
(MedDRA:10068058)
|
Nail atrophy |
|
|
|
|
4 / 7739
|
|
25
|
(HPO:0030350)
|
Erythematous papule |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
26
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
27
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|