MCID: ATR054
MIFTS: 26

Atrophoderma Vermiculata

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 dominant inheritance autosomal recessive 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 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 milia and abnormality of the cardiovascular system

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:

# Related Disease Score Top Affiliating Genes
1 keratosis pilaris atrophicans 11.2
2 verbal auditory agnosia 11.1
3 malignant syringoma 10.2
4 syringoma 10.1
5 folliculitis 10.1

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

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

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

Skin Nails Hair Nails:
leukonychia


Clinical features from OMIM:

209700

Human phenotypes related to Atrophoderma Vermiculata:

32
# Description HPO Frequency HPO Source Accession
1 milia 32 HP:0001056
2 abnormality of the cardiovascular system 32 HP:0001626
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

Publications for Atrophoderma Vermiculata

Articles related to Atrophoderma Vermiculata:

# Title Authors Year
1
Atrophoderma Vermiculatum: A Cutaneous Feature of Loeys-Dietz Syndrome. ( 25564957 )
2015
2
Atrophoderma vermiculatum: a case report and review of the literature on keratosis pilaris atrophicans. ( 19326693 )
2009
3
Atrophoderma vermiculatum with Melkersson-Rosenthal syndrome. ( 15604554 )
2005
4
Laser treatment of atrophoderma vermiculata. ( 11260551 )
2001
5
Unilateral atrophic skin lesion with features of atrophoderma vermiculatum: a variant of the epidermal nevus syndrome? ( 10906657 )
2000
6
Atrophoderma vermiculata along Blaschko lines. ( 10337689 )
1999
7
Folliculitis ulerythematosa reticulata (atrophoderma vermiculata): early detection of a case with unilateral lesions. ( 9720693 )
1998
8
Unilateral atrophoderma vermiculatum. ( 20948104 )
1996
9
[Eruptive generalized syringomas, milium and atrophoderma vermiculata. Nicolau and Balus' syndrome (author's transl)]. ( 7262384 )
1981

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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