Atrichia With Papular Lesions

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.

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.


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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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