Dermatopathia Pigmentosa Reticularis

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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).

Genes related to Dermatopathia Pigmentosa Reticularis

KRT14

View recommended genes panels

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.

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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.

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.

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 Panel complete gene list DST, TGM5, FERMT1, CHST8, CD151, CDSN, COL17A1, COL7A1, KLHL24, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC 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 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Search Engine

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