Ichthyosis Hystrix Of Curth-macklin

Description

Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term).

Clinical Features

Top most frequent phenotypes and symptoms related to Ichthyosis Hystrix Of Curth-macklin

  • Flexion contracture
  • Abnormality of metabolism/homeostasis
  • Hyperkeratosis
  • Nail dystrophy
  • Ichthyosis
  • Recurrent skin infections
  • Erythroderma
  • Skin vesicle
  • Diffuse palmoplantar keratoderma
  • Autoamputation of digits

And another 1 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Ichthyosis Hystrix Of Curth-macklin Is also known as ichthyosis hystrix, curth-macklin type.

Researches and researchers

Doctors, researchs, and experts related to Ichthyosis Hystrix Of Curth-macklin extracted from public data.

Ichthyosis Hystrix Of Curth-macklin Experts map



Current Researchs and researchers

  • LEIPZIG — Pr Thomas MAGIN

    Investigator of research project

    • Institution/s:
      — TRM Universit√§t Leipzig
    • Research area/topic::

      Keratin diseases : Keratin-dependent regulation of protein biosynthesis and cytoskeletal organization during epithelial differentiation



Mendelian

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Ichthyosis Hystrix Of Curth-macklin Recommended genes panels

Panel Name, Specifity and genes Tested/covered
KRT1.

By Institute for Human Genetics University Clinic Freiburg (Germany).

KRT1
Specificity
100 %
Genes
100 %
KRT1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

KRT1
Specificity
100 %
Genes
100 %
KRT1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

KRT1
Specificity
100 %
Genes
100 %
KRT1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

KRT1
Specificity
100 %
Genes
100 %
KRT1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

KRT1
Specificity
100 %
Genes
100 %
Epidermolytic hyperkeratosis (sequence analysis of KRT1 gene).

By CGC Genetics (Portugal).

KRT1
Specificity
100 %
Genes
100 %
Epidermolysis bullosa (NGS panel for 18 genes).

By CGC Genetics (Portugal).

DST, FERMT1, COL17A1, COL7A1, DSP, EXPH5, ITGA3, ITGA6, ITGB4, KRT1, KRT10, KRT14, KRT5, LAMA3, LAMB3, LAMC2, MMP1, PLEC
Specificity
6 %
Genes
100 %
Congenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC27A4, ST14, TGM1, ALOXE3, ABCA12, CLDN1, POMP, PNPLA1, ABHD5, LIPN, CERS3, CYP4F22, NIPAL4, ALOX12B, AP1S1, KRT1, KRT10, KRT2, KRT9
Specificity
6 %
Genes
100 %

We have 23 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Genetic Syndrome Finder

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