Ulerythema Ophryogenesis

Description

Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.

Clinical Features

Top most frequent phenotypes and symptoms related to Ulerythema Ophryogenesis

  • Skeletal muscle atrophy
  • Pectus excavatum
  • Alopecia
  • Arthritis
  • Erythema
  • Scarring
  • Papule
  • Hypotrichosis
  • Ichthyosis
  • Inflammatory abnormality of the skin

And another 12 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
— The onset for some of the known clinical features related to this disease may vary, including infantile onset, childhood onset, and childhood 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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Ulerythema Ophryogenesis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).

RIT1, SHOX, BRAF, SOS1, SPRY2, SRC, CD2AP, GAB2, CBL, SHOC2, SRCAP, SPRED1, ANKRD11, CRK, CRKL, EGFR, ERBB2, FGFR3, AKT1, HRAS , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
LRP1.

By Fulgent Genetics Fulgent Genetics (United States).

LRP1
Specificity
100 %
Genes
100 %

We have -6 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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