AVA
MCID: ATR054
MIFTS: 38

Atrophoderma Vermiculata (AVA)

Categories: Ear diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Atrophoderma Vermiculata

MalaCards integrated aliases for Atrophoderma Vermiculata:

Name: Atrophoderma Vermiculata 57 11 19 58 14
Atrophoderma Vermiculatum 19 28 5 71
Folliculitis Ulerythematosa Reticulata 57 19 31
Atrophodermia Vermiculata 57 19 75
Atrophodermia Reticulata Symmetrica Faciei 57 19
Honeycomb Atrophy 57 19
Folliculitis Ulerythematosa Reticulate 58
Burnett Schwartz Berberian Syndrome 71
Folliculitis Ulerythematosa 19
Atrophodermia Reticulata 19
Ava 57

Characteristics:


Inheritance:

Autosomal recessive 58 , Autosomal dominant 57

Age Of Onset:

Childhood 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
onset typically in childhood although onset in late adolescence or early adulthood has been reported
typically sporadic occurrence


Classifications:

Orphanet: 58  
Rare skin diseases


Summaries for Atrophoderma Vermiculata

OMIM®: 57 Atrophoderma vermiculata, a form of keratosis pilaris atrophicans, typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead. More rarely, the atrophy may extend to the upper lip, helices, ear lobes, and, in some cases, the limbs. The degree of inflammation, the presence of milia, and the extent of follicular plugs are variable (summary by Luria and Conologue, 2009). (209700) (Updated 24-Oct-2022)

MalaCards based summary: Atrophoderma Vermiculata, also known as atrophoderma vermiculatum, is related to keratosis and keratosis pilaris atrophicans. An important gene associated with Atrophoderma Vermiculata is LRP1 (LDL Receptor Related Protein 1), and among its related pathways/superpathways are Alzheimer's disease and miRNA effects and Presenilin-Mediated Signaling. Affiliated tissues include skin and heart, and related phenotypes are atrophic scars and hypoplastic pilosebaceous units

GARD: 19 A rare genetic skin disease characterized by childhood onset of follicular keratotic papules slowly progressing to characteristic ''honeycomb'' atrophy on the cheeks, preauricular area, and forehead. Less frequently, the condition may affect also the upper lip, ears, or limbs. Additional features include facial erythema, milia, and follicular plugs.

Orphanet: 58 A rare genetic skin disease characterized by childhood onset of follicular keratotic papules slowly progressing to characteristic ''honeycomb'' atrophy on the cheeks, preauricular area, and forehead. Less frequently, the condition may affect also the upper lip, ears, or limbs. Additional features include facial erythema, milia, and follicular plugs.

Disease Ontology: 11 A keratosis pilaris atrophicans that typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead.

Wikipedia: 75 Atrophodermia vermiculata presents with erythematous follicular papules on the cheeks in childhood and,... more...

Related Diseases for Atrophoderma Vermiculata

Diseases related to Atrophoderma Vermiculata via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 keratosis 29.9 POMP LRP1
2 keratosis pilaris atrophicans 11.3
3 skin atrophy 10.5
4 anthrax disease 10.4
5 malignant syringoma 10.3
6 granulosis rubra nasi 10.3
7 quinquaud folliculitis decalvans 10.3
8 rombo syndrome 10.2
9 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.2
10 posttransplant acute limbic encephalitis 10.2
11 hypolipoproteinemia 10.2
12 darier-white disease 10.1
13 systemic lupus erythematosus 10.1
14 melkersson-rosenthal syndrome 10.1
15 nevus, epidermal 10.1
16 schimmelpenning-feuerstein-mims syndrome 10.1
17 loeys-dietz syndrome 1 10.1
18 factor xi deficiency 10.1
19 keratosis follicularis spinulosa decalvans, autosomal dominant 10.1
20 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 10.1
21 loeys-dietz syndrome 10.1
22 keratosis pilaris atrophicans faciei 10.1
23 keratosis follicularis spinulosa decalvans 10.1
24 acne 10.1
25 cataract 10.1
26 lupus erythematosus 10.1
27 alopecia 10.1
28 exanthem 10.1
29 syringoma 10.1
30 skin disease 10.1
31 folliculitis 10.1
32 erythrokeratoderma ''en cocardes'' 10.1
33 rare genetic skin disease 10.1
34 down syndrome 10.1
35 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 10.1
36 inhalation anthrax 10.1
37 47 xxx syndrome 10.1
38 body mass index quantitative trait locus 1 10.0
39 coloboma of optic nerve 9.9
40 osteoporosis 9.9
41 prostate cancer 9.9
42 polycythemia vera 9.9
43 rhabdomyosarcoma 2 9.9
44 mental retardation with optic atrophy, deafness, and seizures 9.9
45 stroke, ischemic 9.9
46 leukemia, acute myeloid 9.9
47 prostate cancer, hereditary, 8 9.9
48 coronary heart disease 1 9.9
49 prostate cancer, hereditary, 6 9.9
50 bone mineral density quantitative trait locus 8 9.9

Graphical network of the top 20 diseases related to Atrophoderma Vermiculata:



Diseases related to Atrophoderma Vermiculata

Symptoms & Phenotypes for Atrophoderma Vermiculata

Human phenotypes related to Atrophoderma Vermiculata:

58 30 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 atrophic scars 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001075
2 hypoplastic pilosebaceous units 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007515
3 abnormal epidermal morphology 30 Hallmark (90%) HP:0011124
4 follicular hyperkeratosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0007502
5 hyperkeratotic papule 58 30 Frequent (33%) Frequent (79-30%)
HP:0045059
6 abnormality of the chin 58 30 Frequent (33%) Frequent (79-30%)
HP:0000306
7 periauricular skin pits 58 30 Frequent (33%) Frequent (79-30%)
HP:0100277
8 behavioral abnormality 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000708
9 abnormality of the neck 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000464
10 erythema 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010783
11 pruritus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000989
12 heart block 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012722
13 neurofibromas 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001067
14 pain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012531
15 abnormality of the forehead 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000290
16 abnormality of the cardiovascular system 30 HP:0001626
17 milia 30 HP:0001056
18 leukonychia 30 HP:0001820
19 abnormality of the cheek 58 Very frequent (99-80%)
20 abnormality of epidermal morphology 58 Very frequent (99-80%)
21 skin pit 58 Very frequent (99-80%)
22 atrophodermia vermiculata 30 HP:0100837

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Skin Nails Hair Skin:
milia
small, pit-like, atrophic areas (0.25-2.0mm) predominantly on cheeks

Head And Neck Face:
pit-like depressions on the skin of cheeks and preauricular areas

Skin Nails Hair Nails:
leukonychia

Skin Nails Hair Skin Histology:
thin epidermis
atrophic hair follicles
numerous small, round, keratin-containing cysts
follicular plugs

Clinical features from OMIM®:

209700 (Updated 24-Oct-2022)

Drugs & Therapeutics for Atrophoderma Vermiculata

Search Clinical Trials, NIH Clinical Center for Atrophoderma Vermiculata

Genetic Tests for Atrophoderma Vermiculata

Genetic tests related to Atrophoderma Vermiculata:

# Genetic test Affiliating Genes
1 Atrophoderma Vermiculatum 28

Anatomical Context for Atrophoderma Vermiculata

Organs/tissues related to Atrophoderma Vermiculata:

MalaCards : Skin, Heart

Publications for Atrophoderma Vermiculata

Articles related to Atrophoderma Vermiculata:

(show top 50) (show all 58)
# Title Authors PMID Year
1
Atrophoderma vermiculatum: a case report and review of the literature on keratosis pilaris atrophicans. 62 57
19326693 2009
2
Folliculitis ulerythematosa reticulata (atrophoderma vermiculata): early detection of a case with unilateral lesions. 62 57
9720693 1998
3
Atrophoderma vermiculatum. Case reports and review. 62 57
3280621 1988
4
Folliculitis ulerythematosa reticulata. 62 57
18871388 1948
5
Case of Folliculitis Ulerythematosa Reticulata of MacKee and Parounagian. 62 57
19980906 1920
6
Bilaterale faziale Schwei├čdr├╝senproliferationen und Atrophodermia vermiculata: Simulator des mikrozystischen Adnexkarzinoms - eine Familie mit MALTA-Syndrom. 62
34288460 2021
7
Sweat duct proliferation associated with aggregation of elastic tissue and atrophodermia vermiculata: a simulator of microcystic adnexal carcinoma - a family with MALTA-syndrome. 62
34015181 2021
8
Nevus comedonicus syndrome: A systematic review of the literature. 62
33481271 2021
9
Bilateral Facial Apocrine Fibrosing Hamartoma Mimicking Microcystic Adnexal Carcinoma. 62
31045870 2019
10
[Keratosis pilaris]. 62
31692799 2019
11
A Case of Atrophoderma Vermiculatum Showing a Good Response to Topical Tretinoin. 62
29386852 2018
12
Atrophoderma Vermiculatum in a 12-Year-Old Girl. 62
30575514 2018
13
Lichenoid folliculitis: A unifying concept. 62
28345255 2017
14
Extensive unilateral atrophoderma vermiculatum associated with ipsilateral congenital cataract. 62
26179135 2016
15
Atrophoderma Vermiculatum: A Cutaneous Feature of Loeys-Dietz Syndrome. 62
25564957 2015
16
Red face revisited: Disorders of hair growth and the pilosebaceous unit. 62
25441472 2014
17
Atrophoderma vermiculatum. 62
25129015 2014
18
Cutaneous findings in sporadic and familial autosomal dominant hyper-IgE syndrome: a retrospective, single-center study of 21 patients diagnosed using molecular analysis. 62
21703716 2011
19
Sweat duct proliferation associated with aggregates of elastic tissue and atrophodermia vermiculata: a simulator of microcystic adnexal carcinoma. Report of two cases. 62
20175822 2010
20
A case of atrophoderma vermiculatum responding to systemic isotretinoin. 62
21886736 2009
21
Keratosis pilaris rubra: a common but underrecognized condition. 62
17178988 2006
22
Atrophoderma vermiculatum with Melkersson-Rosenthal syndrome. 62
15604554 2005
23
Atrophodermia vermiculata: case report and review of the literature. 62
12602976 2003
24
A case of Rombo syndrome. 62
11422044 2001
25
Laser treatment of atrophoderma vermiculata. 62
11260551 2001
26
Treatment of keratosis pilaris atrophicans with the pulsed tunable dye laser. 62
11360333 2000
27
Unilateral atrophic skin lesion with features of atrophoderma vermiculatum: a variant of the epidermal nevus syndrome? 62
10906657 2000
28
Atrophoderma vermiculata along Blaschko lines. 62
10337689 1999
29
A case of atrophoderma vermiculatum responding to isotretinoin. 62
9692315 1998
30
Atrophodermia vermiculata. 62
9218894 1997
31
[A case for diagnosis: atrophodermia vermiculata]. 62
9739915 1997
32
Unilateral atrophoderma vermiculatum. 62
20948104 1996
33
[Early and late histologic aspects of atrophodermia vermiculata. A case study]. 62
2279759 1990
34
Honeycomb atrophy on the right cheek. Folliculitis ulerythematosa reticulata (atrophoderma vermiculatum). 62
3389853 1988
35
Atrophoderma Vermiculatum in a Father and Son. 62
28145354 1987
36
Folliculitis ulerythematosus reticulata: a report of four cases and brief review of the literature. 62
3658838 1987
37
[Ulerythema ophryogenes and folliculitis ulerythematosa reticulata]. 62
3654209 1987
38
Ichthyosis follicularis with alopecia and photophobia. 62
4037843 1985
39
[Atrophodermia vermiculata]. 62
6350751 1983
40
[Atrophodermia vermiculata vera (author's transl)]. 62
6458956 1981
41
[Eruptive generalized syringomas, milium and atrophoderma vermiculata. Nicolau and Balus' syndrome (author's transl)]. 62
7262384 1981
42
[Chloracne due to tetrachloro-2,3,7,8-dibenzo-p-dioxin in children (author's transl)]. 62
148858 1977
43
Folliculitis ulerythematosa reticulata. 62
614176 1977
44
Folliculitis ulerythematosa reticulata. A case with unilateral lesion. 62
5055099 1972
45
[Atrophodermia vermiculata with polykeratosis and hyperhidrosis]. 62
5433515 1970
46
[Morphogenesis of (pseudo-) atrophoderma vermiculatum; experimental study]. 62
13435786 1957
47
[Unusual variations in the development of lupus erythematosus. III. Atrophoderma vermiculatum in chronic lupus erythematosus (L. E. vermicolatum)]. 62
13303670 1955
48
[Case of atrophoderma vermiculatum or Thibierge-Brocq acne vermiculata]. 62
13079988 1953
49
Folliculitis ulerythematosa reticulata; granulosis rubra nasi? 62
14789259 1951
50
[Atrophodermia vermiculata]. 62
15435117 1950

Variations for Atrophoderma Vermiculata

ClinVar genetic disease variations for Atrophoderma Vermiculata:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LRP1 NM_002332.3(LRP1):c.3734A>G (p.Lys1245Arg) SNV Not Provided
132834 rs483353013 GRCh37: 12:57569429-57569429
GRCh38: 12:57175646-57175646

Expression for Atrophoderma Vermiculata

Search GEO for disease gene expression data for Atrophoderma Vermiculata.

Pathways for Atrophoderma Vermiculata

Pathways related to Atrophoderma Vermiculata according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.52 PSMB4 PSMA3 LRP1
2 11.41 PSMB4 PSMA3
3 11.25 PSMB4 PSMA3
4
Show member pathways
10.96 PSMB4 PSMA3

GO Terms for Atrophoderma Vermiculata

Cellular components related to Atrophoderma Vermiculata according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteasome complex GO:0000502 9.26 PSMB4 PSMA3
2 proteasome core complex GO:0005839 8.92 PSMB4 PSMA3

Biological processes related to Atrophoderma Vermiculata according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteolysis involved in protein catabolic process GO:0051603 8.96 PSMB4 PSMA3
2 proteasomal protein catabolic process GO:0010498 8.92 PSMB4 PSMA3

Sources for Atrophoderma Vermiculata

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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