AVA
MCID: ATR054
MIFTS: 40

Atrophoderma Vermiculata (AVA)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Atrophoderma Vermiculata

MalaCards integrated aliases for Atrophoderma Vermiculata:

Name: Atrophoderma Vermiculata 57 12 20 58 15
Atrophoderma Vermiculatum 20 29 6 71
Folliculitis Ulerythematosa Reticulata 57 20 32
Atrophodermia Reticulata Symmetrica Faciei 57 20
Atrophodermia Vermiculata 57 20
Honeycomb Atrophy 57 20
Folliculitis Ulerythematosa Reticulate 58
Burnett Schwartz Berberian Syndrome 71
Folliculitis Ulerythematosa 20
Atrophodermia Reticulata 20
Ava 57

Characteristics:

Orphanet epidemiological data:

58
atrophoderma vermiculata
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

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


HPO:

31
atrophoderma vermiculata:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0080756
OMIM® 57 209700
ICD10 32 L66.4
ICD10 via Orphanet 33 L66.4
UMLS via Orphanet 72 C0263429
Orphanet 58 ORPHA79100
MedGen 41 C0263429
UMLS 71 C0263428 C0263429

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 05-Mar-2021)

MalaCards based summary : Atrophoderma Vermiculata, also known as atrophoderma vermiculatum, is related to malignant syringoma and exanthem. An important gene associated with Atrophoderma Vermiculata is LRP1 (LDL Receptor Related Protein 1), and among its related pathways/superpathways are NF-kappaB Signaling and Necroptosis. Affiliated tissues include skin, and related phenotypes are abnormality of the cardiovascular system and milia

Disease Ontology : 12 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 : 74 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 149)
# Related Disease Score Top Affiliating Genes
1 malignant syringoma 30.4 KRT15 CEACAM5
2 exanthem 29.4 IFNG CSF2
3 keratosis pilaris atrophicans 11.2
4 verbal auditory agnosia 11.1
5 skin atrophy 10.5
6 anthrax disease 10.4
7 granulosis rubra nasi 10.3
8 quinquaud folliculitis decalvans 10.3
9 spiradenoma 10.2 KRT15 CYLD
10 rombo syndrome 10.2
11 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.2
12 posttransplant acute limbic encephalitis 10.2
13 keratosis 10.1
14 syringoma 10.1
15 folliculitis 10.1
16 erythrokeratoderma ''en cocardes'' 10.1
17 rare genetic skin disease 10.1
18 darier-white disease 10.1
19 melkersson-rosenthal syndrome 10.1
20 nevus, epidermal 10.1
21 keratosis follicularis spinulosa decalvans, autosomal dominant 10.1
22 loeys-dietz syndrome 10.1
23 keratosis pilaris atrophicans faciei 10.1
24 keratosis follicularis spinulosa decalvans 10.1
25 acne 10.1
26 cataract 10.1
27 lupus erythematosus 10.1
28 alopecia 10.1
29 seizure disorder 10.1
30 eccrine sweat gland cancer 10.1 KRT15 CEACAM5
31 sweat gland cancer 10.1 KRT15 CEACAM5
32 hidrocystoma 10.1 KRT15 CEACAM5
33 eccrine acrospiroma 10.1 KRT15 CEACAM5
34 eccrine sweat gland neoplasm 10.1 KRT15 CEACAM5
35 47,xyy 10.1
36 cystic basal cell carcinoma 10.1 KRT15 CEACAM5
37 eccrine papillary adenoma 10.1 KRT15 CEACAM5
38 malignant spiradenoma 10.1 CYLD CEACAM5
39 vaginal disease 10.1 TLR7 IL1A
40 fallopian tube endometriosis 10.1 MME CEACAM5
41 cervical serous adenocarcinoma 10.1 MME CEACAM5
42 mucocele of appendix 10.1 MME CEACAM5
43 pancreatic serous cystadenocarcinoma 10.0 MME CEACAM5
44 female urethral cancer 10.0 MME CEACAM5
45 borst-jadassohn intraepidermal carcinoma 10.0 TLR7 CEACAM5
46 ovarian mixed germ cell neoplasm 10.0 MME CEACAM5
47 clear cell hidradenoma 10.0 MME CEACAM5
48 pancreatic mucinous cystadenoma 10.0 MME CEACAM5
49 cutaneous adenocystic carcinoma 10.0 MME CEACAM5
50 nasal cavity olfactory neuroblastoma 10.0 MME CEACAM5

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:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the cardiovascular system 31 HP:0001626
2 milia 31 HP:0001056
3 leukonychia 31 HP:0001820
4 atrophodermia vermiculata 31 HP:0100837

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 05-Mar-2021)

MGI Mouse Phenotypes related to Atrophoderma Vermiculata:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.56 CSF2 CYLD IFNG IL1A KRT15 LRP1
2 immune system MP:0005387 9.17 CSF2 CYLD IFNG IL1A LRP1 MME

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:

40
Skin

Publications for Atrophoderma Vermiculata

Articles related to Atrophoderma Vermiculata:

(show all 35)
# Title Authors PMID Year
1
Atrophoderma vermiculatum: a case report and review of the literature on keratosis pilaris atrophicans. 61 57
19326693 2009
2
Folliculitis ulerythematosa reticulata (atrophoderma vermiculata): early detection of a case with unilateral lesions. 61 57
9720693 1998
3
Atrophoderma vermiculatum. Case reports and review. 57 61
3280621 1988
4
Folliculitis ulerythematosa reticulata. 57
18871388 1948
5
Case of Folliculitis Ulerythematosa Reticulata of MacKee and Parounagian. 57
19980906 1920
6
Nevus comedonicus syndrome: A systematic review of the literature. 61
33481271 2021
7
Bilateral Facial Apocrine Fibrosing Hamartoma Mimicking Microcystic Adnexal Carcinoma. 61
31045870 2019
8
[Keratosis pilaris]. 61
31692799 2019
9
A Case of Atrophoderma Vermiculatum Showing a Good Response to Topical Tretinoin. 61
29386852 2018
10
Atrophoderma Vermiculatum in a 12-Year-Old Girl. 61
30575514 2018
11
Lichenoid folliculitis: A unifying concept. 61
28345255 2017
12
Extensive unilateral atrophoderma vermiculatum associated with ipsilateral congenital cataract. 61
26179135 2016
13
Atrophoderma Vermiculatum: A Cutaneous Feature of Loeys-Dietz Syndrome. 61
25564957 2015
14
Red face revisited: Disorders of hair growth and the pilosebaceous unit. 61
25441472 2014
15
Atrophoderma vermiculatum. 61
25129015 2014
16
Cutaneous findings in sporadic and familial autosomal dominant hyper-IgE syndrome: a retrospective, single-center study of 21 patients diagnosed using molecular analysis. 61
21703716 2011
17
A case of atrophoderma vermiculatum responding to systemic isotretinoin. 61
21886736 2009
18
Atrophoderma vermiculatum with Melkersson-Rosenthal syndrome. 61
15604554 2005
19
A case of Rombo syndrome. 61
11422044 2001
20
Laser treatment of atrophoderma vermiculata. 61
11260551 2001
21
Treatment of keratosis pilaris atrophicans with the pulsed tunable dye laser. 61
11360333 2000
22
Unilateral atrophic skin lesion with features of atrophoderma vermiculatum: a variant of the epidermal nevus syndrome? 61
10906657 2000
23
Atrophoderma vermiculata along Blaschko lines. 61
10337689 1999
24
A case of atrophoderma vermiculatum responding to isotretinoin. 61
9692315 1998
25
Unilateral atrophoderma vermiculatum. 61
20948104 1996
26
[Early and late histologic aspects of atrophodermia vermiculata. A case study]. 61
2279759 1990
27
Honeycomb atrophy on the right cheek. Folliculitis ulerythematosa reticulata (atrophoderma vermiculatum). 61
3389853 1988
28
Atrophoderma Vermiculatum in a Father and Son. 61
28145354 1987
29
[Eruptive generalized syringomas, milium and atrophoderma vermiculata. Nicolau and Balus' syndrome (author's transl)]. 61
7262384 1981
30
[Chloracne due to tetrachloro-2,3,7,8-dibenzo-p-dioxin in children (author's transl)]. 61
148858 1977
31
[Morphogenesis of (pseudo-) atrophoderma vermiculatum; experimental study]. 61
13435786 1957
32
[Unusual variations in the development of lupus erythematosus. III. Atrophoderma vermiculatum in chronic lupus erythematosus (L. E. vermicolatum)]. 61
13303670 1955
33
[Case of atrophoderma vermiculatum or Thibierge-Brocq acne vermiculata]. 61
13079988 1953
34
Atrophoderma vermiculatum (?). 61
21015879 1946
35
Atrophoderma vermiculata familiaris. 61
20343176 1946

Variations for Atrophoderma Vermiculata

ClinVar genetic disease variations for Atrophoderma Vermiculata:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LRP1 NM_002332.3(LRP1):c.3734A>G (p.Lys1245Arg) SNV not provided 132834 rs483353013 12:57569429-57569429 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

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.62 TLR7 IL1A IFNG CSF2
2 positive regulation of phagocytosis GO:0050766 9.49 LRP1 IFNG
3 positive regulation of chemokine production GO:0032722 9.48 TLR7 IFNG
4 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.46 IL1A CSF2
5 positive regulation of neurogenesis GO:0050769 9.43 MME IFNG
6 microglial cell activation GO:0001774 9.4 TLR7 IFNG
7 macrophage differentiation GO:0030225 9.37 IFNG CSF2
8 positive regulation of interleukin-6 production GO:0032755 9.33 TLR7 IL1A IFNG
9 amyloid-beta clearance GO:0097242 9.26 MME LRP1
10 amyloid-beta clearance by cellular catabolic process GO:0150094 8.96 MME LRP1
11 positive regulation of interleukin-23 production GO:0032747 8.62 IFNG CSF2

Molecular functions related to Atrophoderma Vermiculata according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 8.8 IL1A IFNG CSF2

Sources for Atrophoderma Vermiculata

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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