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).
Genes related to Keratosis Pilaris Atrophicans; Kpa
- LRP1
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
Incidence and onset information
— Not enough data available about incidence and published cases.
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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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