Atrichia With Papular Lesions

Table of contents:

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

Description

Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.

Genes related to Atrichia With Papular Lesions

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Clinical Features

Top most frequent phenotypes and symptoms related to Atrichia With Papular Lesions

Global developmental delay
Alopecia
Hyperhidrosis
Papule
Hypotrichosis
Falls
Sparse eyebrow
Rickets
Milia
Alopecia totalis

And another 4 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

Atrichia With Papular Lesions Is also known as papular atrichia.

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.

Atrichia With Papular Lesions Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HR. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). HR Specificity 100 % Genes 100 %
Alopecia universalis (sequence analysis of HR gene). By CGC Genetics (Portugal). HR Specificity 100 % Genes 100 %
Hypotrichosis (NGS panel of 10 genes). By CGC Genetics (Portugal). RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR Specificity 10 % Genes 100 %
Hypotrichosis (NGS panel of 10 genes). By CGC Genetics (Portugal). RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR Specificity 10 % Genes 100 %
Hypotrichosis Comprehensive panel. By Connective Tissue Gene Tests (United States). RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR Specificity 10 % Genes 100 %
Hypotrichosis NGS panel. By Connective Tissue Gene Tests (United States). RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR Specificity 10 % Genes 100 %
Hypotrichosis Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR Specificity 10 % Genes 100 %
Alopecia universalis congenita and Atrichia with papular lesions Comprehensive Test. By Connective Tissue Gene Tests (United States). HR Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Search Engine

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