MCID: KRT047
MIFTS: 26

Keratosis Pilaris Atrophicans

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Keratosis Pilaris Atrophicans

MalaCards integrated aliases for Keratosis Pilaris Atrophicans:

Name: Keratosis Pilaris Atrophicans 57 75
Kpa 57 75
Burnett Schwartz Berberian Syndrome 73
Ulerythema Ophryogenesis 59

Characteristics:

Orphanet epidemiological data:

59
ulerythema ophryogenesis
Inheritance: Autosomal dominant,Not applicable; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 family (last curated november 2016)


HPO:

32
keratosis pilaris atrophicans:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


Summaries for Keratosis Pilaris Atrophicans

OMIM : 57 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). (604093)

MalaCards based summary : Keratosis Pilaris Atrophicans, also known as kpa, is related to ulerythema ophryogenesis and atrophoderma vermiculata. An important gene associated with Keratosis Pilaris Atrophicans is LRP1 (LDL Receptor Related Protein 1). Affiliated tissues include skin, and related phenotypes are inflammatory abnormality of the skin and follicular hyperkeratosis

UniProtKB/Swiss-Prot : 75 Keratosis pilaris atrophicans: A group of rare genodermatoses characterized by keratotic follicular papules, variable degrees of inflammation, and secondary atrophic scarring. Most cases are associated with an atopic diathesis and keratosis pilaris on the extensor extremities. KPA is comprised of three distinct clinical subtypes: keratosis pilaris atrophicans faciei, atrophoderma vermiculatum, and keratosis follicularis spinulosa decalvans. Affected individuals may present with features overlapping the 3 subtypes.

Wikipedia : 76 Keratosis pilaris atropicans includes many forms of keratosis pilaris with cicatricial alopecia.... more...

Related Diseases for Keratosis Pilaris Atrophicans

Diseases related to Keratosis Pilaris Atrophicans via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ulerythema ophryogenesis 12.2
2 atrophoderma vermiculata 11.6
3 burnett schwartz berberian syndrome 11.3
4 keratosis 10.7
5 woolly hair syndrome 10.3
6 noonan syndrome 1 10.1
7 folliculitis 10.1
8 follicular mucinosis 10.1
9 pseudo-turner syndrome 10.1

Graphical network of the top 20 diseases related to Keratosis Pilaris Atrophicans:



Diseases related to Keratosis Pilaris Atrophicans

Symptoms & Phenotypes for Keratosis Pilaris Atrophicans

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin Histology:
follicular plugging
comedo formation
perifollicular lympocyte infiltration

Skin Nails Hair Skin:
erythema of cheeks
atrophic skin on cheeks
nonpurulent follicular papules on cheeks
pit-like areas of follicular atrophy on forehead, nasal ridge, upper lip, chin, and earlobes
atrophic pits separated by areas of normal-appearing skin
more
Head And Neck Eyes:
lacrimation in response to sunlight or cool air (in early childhood)

Skin Nails Hair Hair:
absence of body hair, especially after puberty


Clinical features from OMIM:

604093

Human phenotypes related to Keratosis Pilaris Atrophicans:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inflammatory abnormality of the skin 59 32 occasional (7.5%) Very frequent (99-80%) HP:0011123
2 follicular hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0007502
3 ichthyosis 32 occasional (7.5%) HP:0008064
4 pruritus 32 occasional (7.5%) HP:0000989
5 dry skin 32 frequent (33%) HP:0000958
6 alopecia 59 Occasional (29-5%)
7 abnormality of the eyebrow 59 Very frequent (99-80%)
8 aplasia/hypoplasia of the skin 59 Very frequent (99-80%)
9 asthma 32 occasional (7.5%) HP:0002099
10 erythema 59 Very frequent (99-80%)
11 papule 59 Very frequent (99-80%)

Drugs & Therapeutics for Keratosis Pilaris Atrophicans

Search Clinical Trials , NIH Clinical Center for Keratosis Pilaris Atrophicans

Genetic Tests for Keratosis Pilaris Atrophicans

Anatomical Context for Keratosis Pilaris Atrophicans

MalaCards organs/tissues related to Keratosis Pilaris Atrophicans:

41
Skin

Publications for Keratosis Pilaris Atrophicans

Articles related to Keratosis Pilaris Atrophicans:

(show all 17)
# Title Authors Year
1
Desmoglein 4 Mutation Underlies Autosomal Recessive Keratosis Pilaris Atrophicans. ( 29796690 )
2018
2
Nilontinib induced keratosis pilaris atrophicans. ( 27617940 )
2016
3
Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans. ( 26142438 )
2015
4
Eyebrow reconstruction in dormant keratosis pilaris atrophicans. ( 21723799 )
2011
5
Unilateral keratosis pilaris atrophicans faciei mimicking follicular mucinosis. ( 21496685 )
2011
6
Keratosis pilaris rubra and keratosis pilaris atrophicans faciei treated with pulsed dye laser: report of 10 cases. ( 20569297 )
2011
7
Keratosis pilaris atrophicans: treatment with intense pulsed light in four patients. ( 20590370 )
2010
8
Atrophoderma vermiculatum: a case report and review of the literature on keratosis pilaris atrophicans. ( 19326693 )
2009
9
Folliculitis spinulosa decalvans: an uncommon entity within the keratosis pilaris atrophicans spectrum. ( 16780474 )
2006
10
Keratosis pilaris atrophicans: case series and review. ( 14871319 )
2004
11
Keratosis pilaris atrophicans in mother and daughter. ( 12224702 )
2002
12
Treatment of keratosis pilaris atrophicans with the pulsed tunable dye laser. ( 11360333 )
2000
13
Clinical findings, cutaneous pathology, and response to therapy in 21 patients with keratosis pilaris atrophicans. ( 8166484 )
1994
14
Keratosis pilaris atrophicans. One heterogeneous disease or a symptom in different clinical entities? ( 8166489 )
1994
15
The association of keratosis pilaris atrophicans with hereditary woolly hair. ( 2247389 )
1990
16
The association of keratosis pilaris atrophicans and woolly hair, with and without Noonan's syndrome. ( 6696850 )
1984
17
Keratosis pilaris atrophicans faciei (ulerythema ophryogenes): a cutaneous marker in the Noonan syndrome. ( 454568 )
1979

Variations for Keratosis Pilaris Atrophicans

UniProtKB/Swiss-Prot genetic disease variations for Keratosis Pilaris Atrophicans:

75
# Symbol AA change Variation ID SNP ID
1 LRP1 p.Lys1245Arg VAR_077982 rs483353013

ClinVar genetic disease variations for Keratosis Pilaris Atrophicans:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LRP1 NM_002332.2(LRP1): c.3734A> G (p.Lys1245Arg) single nucleotide variant Pathogenic rs483353013 GRCh37 Chromosome 12, 57569429: 57569429
2 LRP1 NM_002332.2(LRP1): c.3734A> G (p.Lys1245Arg) single nucleotide variant Pathogenic rs483353013 GRCh38 Chromosome 12, 57175646: 57175646

Expression for Keratosis Pilaris Atrophicans

Search GEO for disease gene expression data for Keratosis Pilaris Atrophicans.

Pathways for Keratosis Pilaris Atrophicans

GO Terms for Keratosis Pilaris Atrophicans

Sources for Keratosis Pilaris Atrophicans

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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