VSI
MCID: VHW003
MIFTS: 29

Vohwinkel Syndrome, Variant Form (VSI)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Vohwinkel Syndrome, Variant Form

MalaCards integrated aliases for Vohwinkel Syndrome, Variant Form:

Name: Vohwinkel Syndrome, Variant Form 57 29 6 70
Vohwinkel Syndrome with Ichthyosis 57 58 72 13 39
Loricrin Keratoderma 57 58 72
Mutilating Keratoderma with Ichthyosis 57 72
Keratoderma-Ichthyosiform Dermatosis-Elevated Beta-Glucuronidase Syndrome 58
Keratoderma Hereditarium Mutilans with Ichthyosis 58
Vohwinkel Syndrome Variant Form 72
Camisa Disease 58
Vsi 72
Lk 72

Characteristics:

Orphanet epidemiological data:

58
keratoderma hereditarium mutilans with ichthyosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
vohwinkel syndrome, variant form:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 604117
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 71 C1858805
Orphanet 58 ORPHA79395
MedGen 41 C1858805
UMLS 70 C1858805

Summaries for Vohwinkel Syndrome, Variant Form

OMIM® : 57 Variant Vohwinkel syndrome is a rare genodermatosis characterized by hyperkeratosis of the palms and soles, with a honeycomb appearance; constricting bands encircling the digits of the hands and feet, which frequently lead to autoamputation of the fifth digits; starfish-shaped, salmon-colored hyperkeratotic lesions, or knuckle pads, on the dorsal surface of the hands; and ichthyosiform dermatosis. The pathognomonic histologic finding is markedly thickened stratum corneum, hypergranulosis, and particularly, hyperkeratosis with round nuclei retained in the stratum corneum. Unlike classic Vohwinkel syndrome, hearing loss is not a feature (summary by Maestrini et al., 1996). (604117) (Updated 20-May-2021)

MalaCards based summary : Vohwinkel Syndrome, Variant Form, also known as vohwinkel syndrome with ichthyosis, is related to erythrokeratoderma and keratosis. An important gene associated with Vohwinkel Syndrome, Variant Form is LORICRIN (Loricrin Cornified Envelope Precursor Protein). Affiliated tissues include endothelial and skin, and related phenotypes are congenital nonbullous ichthyosiform erythroderma and honeycomb palmoplantar keratoderma

UniProtKB/Swiss-Prot : 72 Vohwinkel syndrome with ichthyosis: A variant form of Vohwinkel syndrome without hearing loss and associated with ichthyosiform dermatosis. Clinical features include palmoplantar keratoderma, pseudoainhum and ichthyosis. Compact hyperkeratosis with round retained nuclei and hypergranulosis is observed on skin biopsies.

Related Diseases for Vohwinkel Syndrome, Variant Form

Diseases in the Vohwinkel Syndrome family:

Vohwinkel Syndrome, Variant Form

Diseases related to Vohwinkel Syndrome, Variant Form via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 erythrokeratoderma 10.4
2 keratosis 10.4
3 skin disease 10.4
4 pseudoainhum 10.3
5 vohwinkel syndrome 10.3
6 ichthyosis 10.3
7 epidermolytic hyperkeratosis 10.2
8 palmoplantar keratosis 10.2
9 autosomal recessive congenital ichthyosis 10.1
10 adermatoglyphia 10.1
11 erythroderma, ichthyosiform, congenital reticular 10.1
12 autosomal dominant epidermolytic ichthyosis 10.1
13 kawasaki disease 9.9
14 epilepsy 9.9
15 high grade glioma 9.9
16 glioma 9.9
17 glial tumor 9.9

Graphical network of the top 20 diseases related to Vohwinkel Syndrome, Variant Form:



Diseases related to Vohwinkel Syndrome, Variant Form

Symptoms & Phenotypes for Vohwinkel Syndrome, Variant Form

Human phenotypes related to Vohwinkel Syndrome, Variant Form:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital nonbullous ichthyosiform erythroderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0007479
2 honeycomb palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0007465
3 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
4 nail dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008404
5 onychogryposis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001805
6 amniotic constriction ring 58 31 occasional (7.5%) Occasional (29-5%) HP:0009775
7 ichthyosis 58 Very frequent (99-80%)
8 hyperkeratosis 31 HP:0000962
9 parakeratosis 31 HP:0001036
10 hypergranulosis 31 HP:0025114
11 orthokeratosis 31 HP:0040162

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin Histology:
hyperkeratosis
parakeratosis
hypergranulosis
orthokeratosis
round retained nuclei
more
Skin Nails Hair Nails:
normal nails

Head And Neck Ears:
normal hearing

Head And Neck Eyes:
normal eyes

Skin Nails Hair Hair:
normal hair

Head And Neck Teeth:
normal teeth

Skin Nails Hair Skin:
collodion membrane at birth (in some patients)
ichthyosiform dermatosis, diffuse generalized
palmoplantar keratoderma, with honeycomb pattern (in most patients)
transgradient extension of hyperkeratosis onto wrists (in some patients)
starfish keratoses (in some patients)
more
Skin Nails Hair Skin Electron Microscopy:
loricrin-immunoreactive intranuclear granules

Clinical features from OMIM®:

604117 (Updated 20-May-2021)

Drugs & Therapeutics for Vohwinkel Syndrome, Variant Form

Search Clinical Trials , NIH Clinical Center for Vohwinkel Syndrome, Variant Form

Genetic Tests for Vohwinkel Syndrome, Variant Form

Genetic tests related to Vohwinkel Syndrome, Variant Form:

# Genetic test Affiliating Genes
1 Vohwinkel Syndrome, Variant Form 29 LORICRIN

Anatomical Context for Vohwinkel Syndrome, Variant Form

MalaCards organs/tissues related to Vohwinkel Syndrome, Variant Form:

40
Endothelial, Skin

Publications for Vohwinkel Syndrome, Variant Form

Articles related to Vohwinkel Syndrome, Variant Form:

# Title Authors PMID Year
1
Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby. 57 6
11703298 2001
2
The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3. 6 57
10798362 2000
3
Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis. 6 57
9326398 1997
4
The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope. 6 57
9326323 1997
5
A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. 57 6
8673107 1996
6
Autosomal dominant keratoderma, ichthyosiform dermatosis and elevated serum beta-glucuronidase. 57
2976687 1988
7
Variant of keratoderma hereditaria mutilans (Vohwinkel's syndrome). Treatment with orally administered isotretinoin. 57
6237617 1984
8
Low-dose isotretinoin prevents digital amputation in loricrin keratoderma (Vohwinkel syndrome with ichthyosis). 61
28591443 2017
9
Activation of vascular endothelial growth factor receptor 2 in a cellular model of loricrin keratoderma. 61
20236940 2010
10
Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis). 61
15102081 2004

Variations for Vohwinkel Syndrome, Variant Form

ClinVar genetic disease variations for Vohwinkel Syndrome, Variant Form:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LORICRIN LOR, 1-BP INS, 730G Insertion Pathogenic 14418 GRCh37:
GRCh38:
2 LORICRIN LOR, 1-BP INS, 709C Insertion Pathogenic 14419 GRCh37:
GRCh38:
3 LORICRIN NM_000427.3(LORICRIN):c.592G>T (p.Gly198Ter) SNV Pathogenic 997458 GRCh37: 1:153234017-153234017
GRCh38: 1:153261541-153261541
4 LORICRIN NM_000427.3(LORICRIN):c.112_114GGC[5] (p.Gly41dup) Microsatellite Uncertain significance 587580 rs770195151 GRCh37: 1:153233535-153233536
GRCh38: 1:153261059-153261060

Expression for Vohwinkel Syndrome, Variant Form

Search GEO for disease gene expression data for Vohwinkel Syndrome, Variant Form.

Pathways for Vohwinkel Syndrome, Variant Form

GO Terms for Vohwinkel Syndrome, Variant Form

Sources for Vohwinkel Syndrome, Variant Form

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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