Monilethrix; Mnlix

Description

Individuals with monilethrix have normal hair at birth, but within the first few months of life develop fragile, brittle hair that tends to fracture and produce varying degrees of dystrophic alopecia. In the mildest forms, only the occipital regions of the scalp are involved; however, in severe forms the eyebrows, eyelashes, and secondary sexual hair may also be involved. Follicular hyperkeratosis with predilection for the scalp, nape of neck, and extensor surfaces of the upper arm and thighs is also a characteristic finding in these patients. Light microscopic examination is diagnostic and reveals elliptical nodes of normal thickness and intermittent constrictions (internodes) at which the hair easily breaks. There may be spontaneous improvement with time, especially during puberty and pregnancy, but the condition never resolves completely (summary by Zlotogorski et al., 2006).An autosomal recessive form of monilethrix-like congenital hypotrichosis (see {607903}) is caused by mutation in the DSG4 gene (OMIM ). The clinical picture of autosomal recessive monilethrix is more severe than the dominant form, with more extensive alopecia of the scalp, body, and limbs, and a papular rash involving the extremities and periumbilical region (Zlotogorski et al., 2006).The term monilethrix derives from the Latin word for necklace and the Greek for hair (Schweizer, 2006).

Clinical Features

Top most frequent phenotypes and symptoms related to Monilethrix; Mnlix

  • Abnormality of metabolism/homeostasis
  • Alopecia
  • Hyperkeratosis
  • Erythema
  • Skin rash
  • Papule
  • Nail dystrophy
  • Hypotrichosis
  • Nail dysplasia
  • Fine hair

And another 6 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.


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Monilethrix; Mnlix Recommended genes panels

Panel Name, Specifity and genes Tested/covered
KRT83.

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

KRT83
Specificity
100 %
Genes
34 %
Erythrokeratodermias and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

DSP, KDSR, GJA1, GJB4, KRT83, LOR
Specificity
17 %
Genes
34 %
Erythrokeratodermias and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

DSP, KDSR, GJA1, GJB4, KRT83, LOR
Specificity
17 %
Genes
34 %
Erythrokeratodermias and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

DSP, KDSR, GJA1, GJB4, KRT83, LOR
Specificity
17 %
Genes
34 %
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel.

By CeGaT GmbH (Germany).

BCS1L, SNRPE, SOX18, ST14, TRPS1, IFT122, WNT10A, EDARADD, SHOC2, LPAR6, APCDD1, TP63, MPLKIP, UBR1, BANF1, CDH3, PORCN, CDSN, KCTD1, WDR19 , (...)

View the complete list with 35 more genes
Specificity
6 %
Genes
100 %
KRT83.

By Fulgent Genetics Fulgent Genetics (United States).

KRT83
Specificity
100 %
Genes
34 %
KRT81.

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

KRT81
Specificity
100 %
Genes
34 %
KRT81. Complete sequencing.

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

KRT81
Specificity
100 %
Genes
34 %

We have 5 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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