MCID: AQG003
MIFTS: 15

Aquagenic Syringeal Acrokeratoderm

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Aquagenic Syringeal Acrokeratoderm

MalaCards integrated aliases for Aquagenic Syringeal Acrokeratoderm:

Name: Aquagenic Syringeal Acrokeratoderm 54
Transient Reactive Papulotranslucent Acrokeratoderma 54 60
Aquagenic Palmoplantar Keratoderma 54 60
Aquagenic Wrinkling of the Palms 54 60
Aquagenic Keratoderma 54 60
Aquagenic Syringeal Acrokeratoderma 60
Aquagenic Wrinkling of the Hands 54

Classifications:

Orphanet: 60  
Rare skin diseases


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Orphanet 60 ORPHA498359

Summaries for Aquagenic Syringeal Acrokeratoderm

NIH Rare Diseases : 54 Aquagenic syringeal acrokeratoderma is a rare condition affecting the palms of the hands. It is characterized by the appearance or worsening of a palmar eruption, following brief exposure to water. The palmar eruption is made up of small, white or shining pimples that can conjoin into plaques. The feet are unaffected. Symptoms include a burning pain and a tightening sensation in the palms, as well as too much sweating. There are two variants. Most commonly, it is a temporary and recurrent condition that appears after submersion in water, known as the �??hand in the bucket sign,�?� that gets better within minutes to hours of drying. A less common variant is characterized by persistent lesions that are worsened after water submersion. The cause of aquagenic syringeal acrokeratoderma is unknown, but likely relates to sweating. Several studies have found that it is present in about 40% to 84% of cystic fibrosis patients and also in carriers, which suggest that it may be caused by mutations in the CFTR gene. It is more often found in young women. Besides cystic fibrosis, it is also seen in wasting (marasmus) and nephrotic syndrome and also with the use of aspirin and other drugs such as rofecoxib and celecoxib. In most cases it does not need any treatment and resolves spontaneously. When necessary, it can be treated with topical aluminum chloride or salicylic acid ointment or with tap water iontophoresis.

MalaCards based summary : Aquagenic Syringeal Acrokeratoderm, also known as transient reactive papulotranslucent acrokeratoderma, is related to palmoplantar keratosis and acrokeratoderma, hereditary papulotranslucent. An important gene associated with Aquagenic Syringeal Acrokeratoderm is CFTR (Cystic Fibrosis Transmembrane Conductance Regulator). Affiliated tissues include skin.

Related Diseases for Aquagenic Syringeal Acrokeratoderm

Diseases related to Aquagenic Syringeal Acrokeratoderm via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 palmoplantar keratosis 10.8
2 acrokeratoderma, hereditary papulotranslucent 10.3
3 cystic fibrosis 10.2

Symptoms & Phenotypes for Aquagenic Syringeal Acrokeratoderm

Drugs & Therapeutics for Aquagenic Syringeal Acrokeratoderm

Search Clinical Trials , NIH Clinical Center for Aquagenic Syringeal Acrokeratoderm

Genetic Tests for Aquagenic Syringeal Acrokeratoderm

Anatomical Context for Aquagenic Syringeal Acrokeratoderm

MalaCards organs/tissues related to Aquagenic Syringeal Acrokeratoderm:

42
Skin

Publications for Aquagenic Syringeal Acrokeratoderm

Articles related to Aquagenic Syringeal Acrokeratoderm:

# Title Authors Year
1
Transient reactive papulotranslucent acrokeratoderma: a report of 3 cases showing excellent response to topical calcipotriene. ( 26682562 )
2015
2
Non-steroidal anti-inflammatory drug - induced transient reactive papulotranslucent acrokeratoderma. ( 24653762 )
2014
3
Atypical form of transient reactive papulotranslucent acrokeratoderma in a cystic fibrosis carrier. ( 23379606 )
2013
4
Atypical form of transient reactive papulotranslucent acrokeratoderma: a case report and review of the literature. ( 21128920 )
2010
5
Transient reactive papulotranslucent acrokeratoderma in a 50-year-old woman: case report and review of the literature. ( 18973409 )
2008
6
Unilateral transient reactive papulotranslucent acrokeratoderma in a child. ( 17958817 )
2007
7
Aquagenic syringeal acrokeratoderma (transient reactive papulotranslucent acrokeratoderma). ( 11834842 )
2002
8
Transient reactive papulotranslucent acrokeratoderma associated with cystic fibrosis. ( 10954989 )
2000
9
Transient reactive papulotranslucent acrokeratoderma. ( 8601664 )
1996

Variations for Aquagenic Syringeal Acrokeratoderm

Expression for Aquagenic Syringeal Acrokeratoderm

Search GEO for disease gene expression data for Aquagenic Syringeal Acrokeratoderm.

Pathways for Aquagenic Syringeal Acrokeratoderm

GO Terms for Aquagenic Syringeal Acrokeratoderm

Sources for Aquagenic Syringeal Acrokeratoderm

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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