Keratosis Pilaris Atrophicans; Kpa

Description

Keratosis pilaris atrophicans (KPA) represents a group of rare genodermatoses characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin. Keratosis pilaris of extensor surfaces of limbs is a common associated finding. Affected individuals may present with features that overlap between 3 subtypes, keratosis pilaris atrophicans faciei (KPAF), keratosis follicularis spinulosa decalvans (KFSD), and atrophoderma vermiculata (AVA; see {209700}) (summary by Klar et al., 2015).

Clinical Features

Top most frequent phenotypes and symptoms related to Keratosis Pilaris Atrophicans; Kpa

  • Skeletal muscle atrophy
  • Pectus excavatum
  • Erythema
  • Arthritis
  • Ichthyosis
  • Papule
  • Inflammatory abnormality of the skin
  • Spinal muscular atrophy
  • Atopic dermatitis
  • Folliculitis
And another 1 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.


Mendelian

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Keratosis Pilaris Atrophicans; Kpa 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 in Spain.

PRKCG, RAF1, IL2RG, FGFR3, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, CBL, MET, NF1, SHOX, ANKRD11, SPRED1 , (...)

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

By Fulgent Genetics Fulgent Genetics in United States.

LRP1
Specificity
100 %
Genes
100 %

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