KPA
MCID: KRT047
MIFTS: 29

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 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 atrophoderma vermiculata and burnett schwartz berberian syndrome. An important gene associated with Keratosis Pilaris Atrophicans is LRP1 (LDL Receptor Related Protein 1). Affiliated tissues include skin, and related phenotypes are erythema and papule

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.

Related Diseases for Keratosis Pilaris Atrophicans

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 atrophoderma vermiculata 11.8
2 burnett schwartz berberian syndrome 11.5
3 ulerythema ophryogenesis 11.5
4 keratosis 10.9
5 woolly hair syndrome 10.4
6 noonan syndrome 1 10.2
7 folliculitis 10.2
8 follicular mucinosis 10.2
9 pseudo-turner syndrome 10.2
10 hypoxia 10.2
11 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Keratosis Pilaris Atrophicans:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 erythema 59 32 Very frequent (99-80%) HP:0010783
2 papule 59 32 Very frequent (99-80%) HP:0200034
3 follicular hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0007502
4 inflammatory abnormality of the skin 59 32 occasional (7.5%) Very frequent (99-80%) HP:0011123
5 ichthyosis 32 occasional (7.5%) HP:0008064
6 pruritus 32 occasional (7.5%) HP:0000989
7 dry skin 32 frequent (33%) HP:0000958
8 alopecia 59 Occasional (29-5%)
9 abnormality of the eyebrow 59 Very frequent (99-80%)
10 aplasia/hypoplasia of the skin 59 Very frequent (99-80%)
11 asthma 32 occasional (7.5%) HP:0002099
12 absent eyelashes 32 HP:0000561
13 sparse eyebrow 32 HP:0045075
14 sunken cheeks 32 HP:0009938
15 comedo 32 HP:0025249
16 epiphora 32 HP:0009926
17 abnormal perifollicular morphology 32 HP:0031285

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 top 50) (show all 60)
# 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
Twenty Species of Hypobarophilic Bacteria Recovered from Diverse Soils Exhibit Growth under Simulated Martian Conditions at 0.7 kPa. ( 27870556 )
2016
10
Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans. ( 26142438 )
2015
11
Biodegradation of insecticide monocrotophos by Bacillus subtilis KPA-1, isolated from agriculture soils. ( 25424286 )
2015
12
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
13
Residual oxygen time model for oxygen partial pressure near 130 kPa (1.3 atm). ( 26742255 )
2015
14
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
15
Shear-wave elastography for breast masses: local shear wave speed (m/sec) versus Young modulus (kPa). ( 24936493 )
2014
16
Cumulative effects of repeated exposure to pO2 = 200 kPa (2 atm). ( 25109082 )
2014
17
Acute extravascular hemolytic transfusion reaction due to anti-Kpa antibody missed by electronic crossmatch. ( 25175412 )
2014
18
The cardiac effects of hyperbaric oxygen at 243 kPa using inchamber echocardiography. ( 25311320 )
2014
19
Treatment of micro air bubbles in rat adipose tissue at 25 kPa altitude exposures with perfluorocarbon emulsions and nitric oxide. ( 24158406 )
2014
20
Effect of oxygen breathing on micro oxygen bubbles in nitrogen-depleted rat adipose tissue at sea level and 25 kPa altitude exposures. ( 22653987 )
2012
21
Eyebrow reconstruction in dormant keratosis pilaris atrophicans. ( 21723799 )
2011
22
Unilateral keratosis pilaris atrophicans faciei mimicking follicular mucinosis. ( 21496685 )
2011
23
Keratosis pilaris rubra and keratosis pilaris atrophicans faciei treated with pulsed dye laser: report of 10 cases. ( 20569297 )
2011
24
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
25
Differences in spirometry and diffusing capacity after a 3-h wet or dry oxygen dive with a PO(2) of 150 kPa. ( 21771262 )
2011
26
Keratosis pilaris atrophicans: treatment with intense pulsed light in four patients. ( 20590370 )
2010
27
Atrophoderma vermiculatum: a case report and review of the literature on keratosis pilaris atrophicans. ( 19326693 )
2009
28
Anti-Kpa-induced severe delayed hemolytic transfusion reaction. ( 19927619 )
2009
29
Pulmonary effects of submerged oxygen breathing in resting divers: repeated exposures to 140 kPa. ( 18500077 )
2008
30
Recovery from central nervous system oxygen toxicity in the rat at oxygen pressures between 100 and 300 kPa. ( 18670785 )
2008
31
Predive sauna and venous gas bubbles upon decompression from 400 kPa. ( 19070305 )
2008
32
Pulmonary effects of submerged exercise while breathing 140 kPa oxygen. ( 19175197 )
2008
33
Folliculitis spinulosa decalvans: an uncommon entity within the keratosis pilaris atrophicans spectrum. ( 16780474 )
2006
34
Conditions leading to high CO2 (>5 kPa) in waterlogged-flooded soils and possible effects on root growth and metabolism. ( 16644893 )
2006
35
Pulmonary effects of submerged oxygen breathing: 4-, 6-, and 8-hour dives at 140 kPa. ( 16457084 )
2005
36
Keratosis pilaris atrophicans: case series and review. ( 14871319 )
2004
37
A Double-Primary Dead-Weight Tester for Pressures (35-175) kPa in Gage Mode. ( 27413591 )
2003
38
Keratosis pilaris atrophicans in mother and daughter. ( 12224702 )
2002
39
Treatment of keratosis pilaris atrophicans with the pulsed tunable dye laser. ( 11360333 )
2000
40
Optimal sample preparation conditions for the determination of uranium in biological samples by kinetic phosphorescence analysis (KPA). ( 11130202 )
2000
41
Blood lactate changes in men during graded workloads at normal atmospheric pressure (100 kPa) and under simulated caisson conditions (400 kPa). ( 10392566 )
1999
42
Changes in human brainstem auditory evoked potentials during a 1,100 kPa He-O2 simulated saturation dive. ( 9670436 )
1998
43
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
44
Doppler-echocardiography study of cardiac function during a 36 atm (3,650 kPa) human dive. ( 9171465 )
1997
45
A sensitive method for the determination of uranium in biological samples utilizing kinetic phosphorescence analysis (KPA). ( 9215968 )
1997
46
Cerebral blood flow and systemic hemodynamics during exposure to 2 kPa CO2-300 kPa O2 in rats. ( 7665405 )
1995
47
ECG changes during the experimental human dive HYDRA 10 (71 atm/7,200 kPa). ( 7742710 )
1995
48
Effect of exposure to oxygen at 101 and 150 kPa on the cerebral circulation and oxygen supply in conscious rats. ( 8983913 )
1995
49
Clinical findings, cutaneous pathology, and response to therapy in 21 patients with keratosis pilaris atrophicans. ( 8166484 )
1994
50
Keratosis pilaris atrophicans. One heterogeneous disease or a symptom in different clinical entities? ( 8166489 )
1994

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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