Dermatopathia Pigmentosa Reticularis

Description

Dermatopathia pigmentosa reticularis is a rare heritable disorder consisting of a triad of cutaneous findings including reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis (Heimer et al., 1992).

Clinical Features

Top most frequent phenotypes and symptoms related to Dermatopathia Pigmentosa Reticularis

  • Abnormality of the dentition
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis
  • Nail dystrophy
  • Palmoplantar keratoderma
  • Ectodermal dysplasia
  • Hypohidrosis
  • Hyperpigmentation of the skin
  • Palmoplantar hyperkeratosis

And another 7 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Dermatopathia Pigmentosa Reticularis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
EBSeq Epidermolysis Bullosa Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

DST, TGM5, FERMT1, CHST8, CD151, CDSN, COL17A1, COL7A1, KLHL24, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
KRT14 Gene Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

KRT14
Specificity
100 %
Genes
100 %
KRT14.

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

KRT14
Specificity
100 %
Genes
100 %
KRT14. Sequencing of the exons 1, 4 and 6.

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

KRT14
Specificity
100 %
Genes
100 %
KRT14. Complete sequencing.

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

KRT14
Specificity
100 %
Genes
100 %
KRT14. Sequencing of the exons 1, 4 and 6.

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

KRT14
Specificity
100 %
Genes
100 %
KRT14. Complete sequencing.

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

KRT14
Specificity
100 %
Genes
100 %
Epidermolysis bullosa simplex (sequence analysis of KRT14 gene).

By CGC Genetics (Portugal).

KRT14
Specificity
100 %
Genes
100 %

We have 31 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WARSAW BREAKAGE SYNDROME; WABS PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES; PASNA HYPOSPADIAS 1, X-LINKED; HYSP1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more