KPA
MCID: KRT047
MIFTS: 32

Keratosis Pilaris Atrophicans (KPA)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Keratosis Pilaris Atrophicans

MalaCards integrated aliases for Keratosis Pilaris Atrophicans:

Name: Keratosis Pilaris Atrophicans 58 76
Kpa 58 76
Burnett Schwartz Berberian Syndrome 74
Ulerythema Ophryogenesis 60

Characteristics:

Orphanet epidemiological data:

60
ulerythema ophryogenesis
Inheritance: Autosomal dominant,Not applicable; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
keratosis pilaris atrophicans:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


Summaries for Keratosis Pilaris Atrophicans

OMIM : 58 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 atrophoderma vermiculata and ulerythema ophryogenesis. An important gene associated with Keratosis Pilaris Atrophicans is LRP1 (LDL Receptor Related Protein 1). Affiliated tissues include skin, brain and breast, and related phenotypes are follicular hyperkeratosis and dry skin

UniProtKB/Swiss-Prot : 76 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.

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 atrophoderma vermiculata 11.8
2 ulerythema ophryogenesis 11.5
3 keratosis 10.9
4 woolly hair syndrome 10.4
5 hypoxia 10.3
6 noonan syndrome 1 10.3
7 folliculitis 10.3
8 follicular mucinosis 10.3
9 pseudo-turner syndrome 10.3
10 lymphoma 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

Human phenotypes related to Keratosis Pilaris Atrophicans:

60 33 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 follicular hyperkeratosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0007502
2 dry skin 33 frequent (33%) HP:0000958
3 inflammatory abnormality of the skin 60 33 occasional (7.5%) Very frequent (99-80%) HP:0011123
4 ichthyosis 33 occasional (7.5%) HP:0008064
5 pruritus 33 occasional (7.5%) HP:0000989
6 asthma 33 occasional (7.5%) HP:0002099
7 erythema 60 33 Very frequent (99-80%) HP:0010783
8 papule 60 33 Very frequent (99-80%) HP:0200034
9 alopecia 60 Occasional (29-5%)
10 abnormality of the eyebrow 60 Very frequent (99-80%)
11 aplasia/hypoplasia of the skin 60 Very frequent (99-80%)
12 absent eyelashes 33 HP:0000561
13 sparse eyebrow 33 HP:0045075
14 sunken cheeks 33 HP:0009938
15 comedo 33 HP:0025249
16 epiphora 33 HP:0009926
17 abnormal perifollicular morphology 33 HP:0031285

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin Histology:
follicular plugging
comedo formation
perifollicular lymphocyte 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

MGI Mouse Phenotypes related to Keratosis Pilaris Atrophicans:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.62 DSG4 LRP1

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:

42
Skin, Brain, Breast

Publications for Keratosis Pilaris Atrophicans

Articles related to Keratosis Pilaris Atrophicans:

(show top 50) (show all 66)
# Title Authors Year
1
Desmoglein 4 Mutation Underlies Autosomal Recessive Keratosis Pilaris Atrophicans. ( 29796690 )
2018
2
Predicting soil water content at - 33 kPa by pedotransfer functions in stoniness 1 soils in northeast Venezuela. ( 29470671 )
2018
3
Anti Kpa alloantibody: Development of a rare alloantibody in a non-Hodgkin's lymphoma patient of Indian origin. ( 29563682 )
2018
4
Direct Detection of Small n-Alkanes at Sub-ppbv Level by Photoelectron-Induced O2+ Cation Chemical Ionization Mass Spectrometry at kPa Pressure. ( 29570978 )
2018
5
Acute Hemolytic Transfusion Reaction Due to Anti-Kpa Antibody. ( 29999609 )
2018
6
Final Report on the Key Comparison CCM.P-K4.2012 in Absolute Pressure from 1 Pa to 10 kPa. ( 28216793 )
2017
7
Nilontinib induced keratosis pilaris atrophicans. ( 27617940 )
2016
8
Twenty-Three Species of Hypobarophilic Bacteria Recovered from Diverse Ecosystems Exhibit Growth under Simulated Martian Conditions at 0.7 kPa. ( 27135839 )
2016
9
AFM mapping of the elastic properties of brain tissue reveals kPa μm(-1) gradients of rigidity. ( 27377831 )
2016
10
Twenty Species of Hypobarophilic Bacteria Recovered from Diverse Soils Exhibit Growth under Simulated Martian Conditions at 0.7 kPa. ( 27870556 )
2016
11
Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans. ( 26142438 )
2015
12
Biodegradation of insecticide monocrotophos by Bacillus subtilis KPA-1, isolated from agriculture soils. ( 25424286 )
2015
13
Evaluating PAI-1 as a biomarker for stress in diving: human serum total PAI-1 is unaltered after 2 h dry exposures to 280 kPa hyperbaric air. ( 26109191 )
2015
14
Residual oxygen time model for oxygen partial pressure near 130 kPa (1.3 atm). ( 26742255 )
2015
15
Treatment of micro air bubbles in rat adipose tissue at 25 kPa altitude exposures with perfluorocarbon emulsions and nitric oxide. ( 24158406 )
2014
16
Predicting the lack of ROSC during pre-hospital CPR: should an end-tidal CO2 of 1.3 kPa be used as a cut-off value? ( 24361671 )
2014
17
Shear-wave elastography for breast masses: local shear wave speed (m/sec) versus Young modulus (kPa). ( 24936493 )
2014
18
Cumulative effects of repeated exposure to pO2 = 200 kPa (2 atm). ( 25109082 )
2014
19
Acute extravascular hemolytic transfusion reaction due to anti-Kpa antibody missed by electronic crossmatch. ( 25175412 )
2014
20
The cardiac effects of hyperbaric oxygen at 243 kPa using inchamber echocardiography. ( 25311320 )
2014
21
An omni-directional optical antenna and its beam control method based on the EC-KPA algorithm for mobile FSO. ( 23389210 )
2013
22
Effect of oxygen breathing on micro oxygen bubbles in nitrogen-depleted rat adipose tissue at sea level and 25 kPa altitude exposures. ( 22653987 )
2012
23
Unilateral keratosis pilaris atrophicans faciei mimicking follicular mucinosis. ( 21496685 )
2011
24
Eyebrow reconstruction in dormant keratosis pilaris atrophicans. ( 21723799 )
2011
25
Keratosis pilaris rubra and keratosis pilaris atrophicans faciei treated with pulsed dye laser: report of 10 cases. ( 20569297 )
2011
26
Analysis of clinical outcomes of linear vs. deep stop decompression from 3.5 to 6 atmospheres absolute (350 - 600 kpa) in awake rats. ( 21384762 )
2011
27
Differences in spirometry and diffusing capacity after a 3-h wet or dry oxygen dive with a PO(2) of 150 kPa. ( 21771262 )
2011
28
Keratosis pilaris atrophicans: treatment with intense pulsed light in four patients. ( 20590370 )
2010
29
Atrophoderma vermiculatum: a case report and review of the literature on keratosis pilaris atrophicans. ( 19326693 )
2009
30
Anti-Kpa-induced severe delayed hemolytic transfusion reaction. ( 19927619 )
2009
31
Pulmonary effects of submerged oxygen breathing in resting divers: repeated exposures to 140 kPa. ( 18500077 )
2008
32
Recovery from central nervous system oxygen toxicity in the rat at oxygen pressures between 100 and 300 kPa. ( 18670785 )
2008
33
Effect of oxygen and heliox breathing on air bubbles in adipose tissue during 25-kPa altitude exposures. ( 18756005 )
2008
34
Predive sauna and venous gas bubbles upon decompression from 400 kPa. ( 19070305 )
2008
35
Pulmonary effects of submerged exercise while breathing 140 kPa oxygen. ( 19175197 )
2008
36
Folliculitis spinulosa decalvans: an uncommon entity within the keratosis pilaris atrophicans spectrum. ( 16780474 )
2006
37
Conditions leading to high CO2 (>5 kPa) in waterlogged-flooded soils and possible effects on root growth and metabolism. ( 16644893 )
2006
38
Pulmonary effects of submerged oxygen breathing: 4-, 6-, and 8-hour dives at 140 kPa. ( 16457084 )
2005
39
Keratosis pilaris atrophicans: case series and review. ( 14871319 )
2004
40
A Double-Primary Dead-Weight Tester for Pressures (35-175) kPa in Gage Mode. ( 27413591 )
2003
41
Keratosis pilaris atrophicans in mother and daughter. ( 12224702 )
2002
42
Treatment of keratosis pilaris atrophicans with the pulsed tunable dye laser. ( 11360333 )
2000
43
Optimal sample preparation conditions for the determination of uranium in biological samples by kinetic phosphorescence analysis (KPA). ( 11130202 )
2000
44
Blood lactate changes in men during graded workloads at normal atmospheric pressure (100 kPa) and under simulated caisson conditions (400 kPa). ( 10392566 )
1999
45
Oxidative stress during a 3.5-hour exposure to 120 kPa(a) PO2 in human divers. ( 10485516 )
1999
46
Changes in human brainstem auditory evoked potentials during a 1,100 kPa He-O2 simulated saturation dive. ( 9670436 )
1998
47
The value of forced expiratory volume in 1 s in screening subjects with stable COPD for PaO2 < 7.3 kPa qualifying for long-term oxygen therapy. ( 9926166 )
1998
48
Doppler-echocardiography study of cardiac function during a 36 atm (3,650 kPa) human dive. ( 9171465 )
1997
49
A sensitive method for the determination of uranium in biological samples utilizing kinetic phosphorescence analysis (KPA). ( 9215968 )
1997
50
A case of hemolytic disease of the newborn due to anti-Kpa. ( 15387785 )
1997

Variations for Keratosis Pilaris Atrophicans

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

76
# 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

Molecular functions related to Keratosis Pilaris Atrophicans according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 8.62 DSG4 LRP1

Sources for Keratosis Pilaris Atrophicans

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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