Vohwinkel Syndrome, Variant Form

Description

Keratoderma hereditarium mutilans with ichthyosis is a diffuse palmoplantar keratoderma characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.

Clinical Features

Top most frequent phenotypes and symptoms related to Vohwinkel Syndrome, Variant Form

  • Hearing impairment
  • Sensorineural hearing impairment
  • Milia
  • Erythema
  • Hyperkeratosis
  • Ranula
  • Ichthyosis
  • Nail dystrophy
  • Palmoplantar keratoderma
  • Skin vesicle
And another 15 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Vohwinkel Syndrome, Variant Form Recommended genes panels

Panel Name, Specifity and genes Tested/covered
LOR.

By Institute for Human Genetics University Clinic Freiburg in Germany.

LOR
Specificity
100 %
Genes
100 %
LOR. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

LOR
Specificity
100 %
Genes
100 %
Progressive Symmetric Erythrokeratoderma (sequence analysis of LOR gene).

By CGC Genetics in Portugal.

LOR
Specificity
100 %
Genes
100 %
Ichthyosis Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ABCA12, TGM1, GJB3, GJA1, TGM5, CHST8, CDSN, ALOX12B, KRT10, NIPAL4, KRT1, CERS3, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, POMP, GJB4 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Ichthyosis NGS panel.

By Connective Tissue Gene Tests in United States.

ABCA12, TGM1, GJB3, GJA1, TGM5, CHST8, CDSN, ALOX12B, KRT10, NIPAL4, KRT1, CERS3, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, POMP, GJB4 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Ichthyosis Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ABCA12, TGM1, GJB3, GJA1, TGM5, CHST8, CDSN, ALOX12B, KRT10, NIPAL4, KRT1, CERS3, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, POMP, GJB4 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Erythrokeratodermias and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

DSP, GJB3, GJA1, KRT83, LOR, GJB4, KDSR
Specificity
15 %
Genes
100 %
Erythrokeratodermias and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

DSP, GJB3, GJA1, KRT83, LOR, GJB4, KDSR
Specificity
15 %
Genes
100 %
Erythrokeratodermias and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

DSP, GJB3, GJA1, KRT83, LOR, GJB4, KDSR
Specificity
15 %
Genes
100 %
Vohwinkel syndrome with ichthyosis.

By Centogene AG - the Rare Disease Company in Germany.

LOR
Specificity
100 %
Genes
100 %
Ichthyoses and related disorders of cornification Panel.

By CeGaT GmbH in Germany.

ABCA12, ELOVL4, DSP, TAT, ABHD5, ALDH3A2, PHYH, ALMS1, GJB2, GJB6, SUMF1, TGM1, ATP2A2, ERCC2, ERCC3, GJB3, MBTPS2, EBP, NSDHL, CTSC , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
LOR.

By Division Human Genetics Medical University Innsbruck in Austria.

LOR
Specificity
100 %
Genes
100 %
LOR.

By Fulgent Genetics Fulgent Genetics in United States.

LOR
Specificity
100 %
Genes
100 %
Ichthyosis Panel.

By Blueprint Genetics in Finland.

ABCA12, ABHD5, ALDH3A2, PHYH, GJB2, PEX7, SUMF1, TGM1, ERCC2, GJB3, MBTPS2, EBP, GJA1, CDSN, ALOX12B, KRT9, SLC27A4, KRT10, NIPAL4, SPINK5 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Palmoplantar Keratoderma Panel.

By Blueprint Genetics in Finland.

DSP, GJB2, GJB6, MBTPS2, CTSC, JUP, PKP1, KRT14, ENPP1, KRT9, KRT16, KRT6A, KRT1, TRPV3, SLURP1, LOR, DSG1, AAGAB, KRT6C, KRT17 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Keratoderma hereditarium mutilans with ichthyosis.

By Bioarray in Spain.

LOR
Specificity
100 %
Genes
100 %
Vohwinkel with Ichthyosis Syndrome , Sequencing LOR Gene.

By Reference Laboratory Genetics in Spain.

LOR
Specificity
100 %
Genes
100 %
Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes.

By Reference Laboratory Genetics in Spain.

ABCA12, PHYH, GJB2, PEX7, SUMF1, TGM1, ERCC3, GJB3, EBP, TGM5, CLDN1, SNAP29, ALOX12B, KRT9, SLC27A4, KRT10, NIPAL4, SPINK5, KRT1, LOR , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Erythrokeratodermia Variabilis et Progressiva , Panel Massive Sequencing (NGS) GJB4, GJB3, GJA1, LOR Genes.

By Reference Laboratory Genetics in Spain.

GJB3, GJA1, LOR, GJB4
Specificity
25 %
Genes
100 %

Alternate names

Vohwinkel Syndrome, Variant Form Is also known as vohwinkel syndrome with ichthyosis, mutilating keratoderma with ichthyosis, loricrin keratoderma;camisa disease; keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome; loricrin keratoderma; vohwinkel syndrome with ichthyosis.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PREMATURE OVARIAN FAILURE 11; POF11

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more