AVA
MCID: ATR054
MIFTS: 30

Atrophoderma Vermiculata (AVA)

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Atrophoderma Vermiculata

MalaCards integrated aliases for Atrophoderma Vermiculata:

Name: Atrophoderma Vermiculata 57 53 59
Atrophoderma Vermiculatum 53 29 6 73
Atrophodermia Reticulata Symmetrica Faciei 57 53
Folliculitis Ulerythematosa Reticulata 57 53
Atrophodermia Vermiculata 57 53
Honeycomb Atrophy 57 53
Folliculitis Ulerythematosa Reticulate 59
Burnett Schwartz Berberian Syndrome 73
Folliculitis Ulerythematosa 53
Atrophodermia Reticulata 53
Ava 57

Characteristics:

Orphanet epidemiological data:

59
atrophoderma vermiculata
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset typically in childhood although onset in late adolescence or early adulthood has been reported
typically sporadic occurrence


HPO:

32
atrophoderma vermiculata:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 209700
Orphanet 59 ORPHA79100
UMLS via Orphanet 74 C0263429
ICD10 via Orphanet 34 L66.4
MedGen 42 C0263429
ICD10 33 L66.4

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)

MalaCards based summary : Atrophoderma Vermiculata, also known as atrophoderma vermiculatum, is related to keratosis pilaris atrophicans and rombo syndrome. An important gene associated with Atrophoderma Vermiculata is LRP1 (LDL Receptor Related Protein 1). Affiliated tissues include skin and heart, and related phenotypes are abnormality of the cardiovascular system and milia

Wikipedia : 76 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 all 21)
# Related Disease Score Top Affiliating Genes
1 keratosis pilaris atrophicans 11.4
2 rombo syndrome 11.4
3 verbal auditory agnosia 11.2
4 lupus erythematosus 10.5
5 malignant syringoma 10.4
6 granulosis rubra nasi 10.4
7 quinquaud's decalvans folliculitis 10.4
8 folliculitis 10.3
9 melkersson-rosenthal syndrome 10.2
10 nevus, epidermal 10.2
11 cataract 10.2
12 loeys-dietz syndrome 10.2
13 keratosis 10.2
14 body mass index quantitative trait locus 1 10.1
15 inhalation anthrax 10.1
16 anthrax disease 10.1
17 stroke, ischemic 10.0
18 dermatitis, atopic 10.0
19 coronary heart disease 1 10.0
20 heart disease 10.0
21 dermatitis 10.0

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



Diseases related to Atrophoderma Vermiculata

Symptoms & Phenotypes for Atrophoderma Vermiculata

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Atrophoderma Vermiculata:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the cardiovascular system 32 HP:0001626
2 milia 32 HP:0001056
3 leukonychia 32 HP:0001820
4 atrophodermia vermiculata 32 HP:0100837

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 29

Anatomical Context for Atrophoderma Vermiculata

MalaCards organs/tissues related to Atrophoderma Vermiculata:

41
Skin, Heart

Publications for Atrophoderma Vermiculata

Articles related to Atrophoderma Vermiculata:

(show all 18)
# Title Authors Year
1
A Case of Atrophoderma Vermiculatum Showing a Good Response to Topical Tretinoin. ( 29386852 )
2018
2
Extensive unilateral atrophoderma vermiculatum associated with ipsilateral congenital cataract. ( 26179135 )
2016
3
Atrophoderma Vermiculatum: A Cutaneous Feature of Loeys-Dietz Syndrome. ( 25564957 )
2015
4
Atrophoderma vermiculatum. ( 25129015 )
2014
5
Atrophoderma vermiculatum: a case report and review of the literature on keratosis pilaris atrophicans. ( 19326693 )
2009
6
A case of atrophoderma vermiculatum responding to systemic isotretinoin. ( 21886736 )
2009
7
Atrophoderma vermiculatum with Melkersson-Rosenthal syndrome. ( 15604554 )
2005
8
Laser treatment of atrophoderma vermiculata. ( 11260551 )
2001
9
Unilateral atrophic skin lesion with features of atrophoderma vermiculatum: a variant of the epidermal nevus syndrome? ( 10906657 )
2000
10
Atrophoderma vermiculata along Blaschko lines. ( 10337689 )
1999
11
Folliculitis ulerythematosa reticulata (atrophoderma vermiculata): early detection of a case with unilateral lesions. ( 9720693 )
1998
12
A case of atrophoderma vermiculatum responding to isotretinoin. ( 9692315 )
1998
13
Unilateral atrophoderma vermiculatum. ( 20948104 )
1996
14
Honeycomb atrophy on the right cheek. Folliculitis ulerythematosa reticulata (atrophoderma vermiculatum). ( 3389853 )
1988
15
Atrophoderma vermiculatum. Case reports and review. ( 3280621 )
1988
16
Atrophoderma Vermiculatum in a Father and Son. ( 28145354 )
1987
17
[Eruptive generalized syringomas, milium and atrophoderma vermiculata. Nicolau and Balus' syndrome (author's transl)]. ( 7262384 )
1981
18
Atrophoderma vermiculatum (?). ( 21015879 )
1946

Variations for Atrophoderma Vermiculata

ClinVar genetic disease variations for Atrophoderma Vermiculata:

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 Atrophoderma Vermiculata

Search GEO for disease gene expression data for Atrophoderma Vermiculata.

Pathways for Atrophoderma Vermiculata

GO Terms for Atrophoderma Vermiculata

Sources for Atrophoderma Vermiculata

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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