AVA
MCID: ATR054
MIFTS: 28

Atrophoderma Vermiculata (AVA)

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Atrophoderma Vermiculata

MalaCards integrated aliases for Atrophoderma Vermiculata:

Name: Atrophoderma Vermiculata 56 52 58
Atrophoderma Vermiculatum 52 29 6 71
Folliculitis Ulerythematosa Reticulata 56 52 32
Atrophodermia Reticulata Symmetrica Faciei 56 52
Atrophodermia Vermiculata 56 52
Honeycomb Atrophy 56 52
Folliculitis Ulerythematosa Reticulate 58
Burnett Schwartz Berberian Syndrome 71
Folliculitis Ulerythematosa 52
Atrophodermia Reticulata 52
Ava 56

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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:

OMIM 56 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 : 56 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 verbal auditory agnosia. An important gene associated with Atrophoderma Vermiculata is LRP1 (LDL Receptor Related Protein 1). Affiliated tissues include skin, and related phenotypes are abnormality of the cardiovascular system and milia

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 all 47)
# Related Disease Score Top Affiliating Genes
1 keratosis pilaris atrophicans 11.9
2 verbal auditory agnosia 11.4
3 skin atrophy 10.6
4 anthrax disease 10.6
5 lupus erythematosus 10.5
6 cataract 10.5
7 granulosis rubra nasi 10.4
8 quinquaud folliculitis decalvans 10.4
9 rombo syndrome 10.4
10 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.4
11 malignant syringoma 10.4
12 posttransplant acute limbic encephalitis 10.4
13 exanthem 10.3
14 keratosis 10.3
15 syringoma 10.3
16 folliculitis 10.3
17 erythrokeratoderma ''en cocardes'' 10.3
18 rare genetic skin disease 10.3
19 neurofibromatosis, type ii 10.3
20 darier-white disease 10.3
21 melkersson-rosenthal syndrome 10.3
22 nevus, epidermal 10.3
23 keratosis follicularis spinulosa decalvans, autosomal dominant 10.3
24 loeys-dietz syndrome 10.3
25 alopecia 10.3
26 keratosis follicularis spinulosa decalvans 10.3
27 seizure disorder 10.3
28 aneurysm 10.3
29 body mass index quantitative trait locus 1 10.2
30 inhalation anthrax 10.2
31 osteoporosis 10.1
32 ocular motor apraxia 10.1
33 polycythemia vera 10.1
34 mental retardation with optic atrophy, deafness, and seizures 10.1
35 leukemia, acute myeloid 10.1
36 coronary heart disease 1 10.1
37 bone mineral density quantitative trait locus 8 10.1
38 bone mineral density quantitative trait locus 15 10.1
39 epilepsy 10.1
40 severe acute respiratory syndrome 10.1
41 acute kidney failure 10.1
42 lipid metabolism disorder 10.1
43 hemolytic anemia 10.1
44 polycythemia 10.1
45 myeloid leukemia 10.1
46 pulmonary emphysema 10.1
47 47,xyy 10.1

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:

56
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

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 33)
# Title Authors PMID Year
1
Atrophoderma vermiculatum: a case report and review of the literature on keratosis pilaris atrophicans. 61 56
19326693 2009
2
Folliculitis ulerythematosa reticulata (atrophoderma vermiculata): early detection of a case with unilateral lesions. 61 56
9720693 1998
3
Atrophoderma vermiculatum. Case reports and review. 56 61
3280621 1988
4
Folliculitis ulerythematosa reticulata. 56
18871388 1948
5
Case of Folliculitis Ulerythematosa Reticulata of MacKee and Parounagian. 56
19980906 1920
6
Bilateral Facial Apocrine Fibrosing Hamartoma Mimicking Microcystic Adnexal Carcinoma. 61
31045870 2019
7
[Keratosis pilaris]. 61
31692799 2019
8
A Case of Atrophoderma Vermiculatum Showing a Good Response to Topical Tretinoin. 61
29386852 2018
9
Atrophoderma Vermiculatum in a 12-Year-Old Girl. 61
30575514 2018
10
Lichenoid folliculitis: A unifying concept. 61
28345255 2017
11
Extensive unilateral atrophoderma vermiculatum associated with ipsilateral congenital cataract. 61
26179135 2016
12
Atrophoderma Vermiculatum: A Cutaneous Feature of Loeys-Dietz Syndrome. 61
25564957 2015
13
Red face revisited: Disorders of hair growth and the pilosebaceous unit. 61
25441472 2014
14
Atrophoderma vermiculatum. 61
25129015 2014
15
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
16
A case of atrophoderma vermiculatum responding to systemic isotretinoin. 61
21886736 2009
17
Atrophoderma vermiculatum with Melkersson-Rosenthal syndrome. 61
15604554 2005
18
A case of Rombo syndrome. 61
11422044 2001
19
Laser treatment of atrophoderma vermiculata. 61
11260551 2001
20
Treatment of keratosis pilaris atrophicans with the pulsed tunable dye laser. 61
11360333 2000
21
Unilateral atrophic skin lesion with features of atrophoderma vermiculatum: a variant of the epidermal nevus syndrome? 61
10906657 2000
22
Atrophoderma vermiculata along Blaschko lines. 61
10337689 1999
23
A case of atrophoderma vermiculatum responding to isotretinoin. 61
9692315 1998
24
Unilateral atrophoderma vermiculatum. 61
20948104 1996
25
[Early and late histologic aspects of atrophodermia vermiculata. A case study]. 61
2279759 1990
26
Honeycomb atrophy on the right cheek. Folliculitis ulerythematosa reticulata (atrophoderma vermiculatum). 61
3389853 1988
27
Atrophoderma Vermiculatum in a Father and Son. 61
28145354 1987
28
[Eruptive generalized syringomas, milium and atrophoderma vermiculata. Nicolau and Balus' syndrome (author's transl)]. 61
7262384 1981
29
[Chloracne due to tetrachloro-2,3,7,8-dibenzo-p-dioxin in children (author's transl)]. 61
148858 1977
30
[Morphogenesis of (pseudo-) atrophoderma vermiculatum; experimental study]. 61
13435786 1957
31
[Unusual variations in the development of lupus erythematosus. III. Atrophoderma vermiculatum in chronic lupus erythematosus (L. E. vermicolatum)]. 61
13303670 1955
32
[Case of atrophoderma vermiculatum or Thibierge-Brocq acne vermiculata]. 61
13079988 1953
33
Atrophoderma vermiculatum (?). 61
21015879 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 Pathogenic 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

Sources for Atrophoderma Vermiculata

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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