MCID: AQG004
MIFTS: 16

Aquagenic Syringeal Acrokeratoderma

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Aquagenic Syringeal Acrokeratoderma

MalaCards integrated aliases for Aquagenic Syringeal Acrokeratoderma:

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

Classifications:

Orphanet: 60  
Rare skin diseases


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Orphanet 60 ORPHA498359

Summaries for Aquagenic Syringeal Acrokeratoderma

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 Acrokeratoderma, also known as transient reactive papulotranslucent acrokeratoderma, is related to palmoplantar keratosis and acrokeratoderma, hereditary papulotranslucent. An important gene associated with Aquagenic Syringeal Acrokeratoderma is CFTR (CF Transmembrane Conductance Regulator). Affiliated tissues include skin.

Related Diseases for Aquagenic Syringeal Acrokeratoderma

Diseases related to Aquagenic Syringeal Acrokeratoderma 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 Acrokeratoderma

Drugs & Therapeutics for Aquagenic Syringeal Acrokeratoderma

Search Clinical Trials , NIH Clinical Center for Aquagenic Syringeal Acrokeratoderma

Genetic Tests for Aquagenic Syringeal Acrokeratoderma

Anatomical Context for Aquagenic Syringeal Acrokeratoderma

MalaCards organs/tissues related to Aquagenic Syringeal Acrokeratoderma:

42
Skin

Publications for Aquagenic Syringeal Acrokeratoderma

Articles related to Aquagenic Syringeal Acrokeratoderma:

(show all 28)
# Title Authors Year
1
Aquagenic Syringeal Acrokeratoderma: Report of a Case with Dermoscopic Findings. ( 30078888 )
2018
2
Translucent whitish papules on the palms after exposure to the water - aquagenic syringeal acrokeratoderma. ( 28951715 )
2017
3
Role of cyclooxygenase inhibitors in aquagenic syringeal acrokeratoderma. ( 26833962 )
2016
4
Dermoscopic features of aquagenic syringeal acrokeratoderma. ( 26994017 )
2016
5
Aquagenic syringeal acrokeratoderma. ( 27559519 )
2016
6
Acquired aquagenic syringeal acrokeratoderma: A case series of 10 patients. ( 24283504 )
2015
7
Case report: Treatment failure in a case of aquagenic syringeal acrokeratoderma. ( 25549815 )
2015
8
Permanent treatment of aquagenic syringeal acrokeratoderma with endoscopic thoracic sympathectomy. ( 26515860 )
2015
9
Transient reactive papulotranslucent acrokeratoderma: a report of 3 cases showing excellent response to topical calcipotriene. ( 26682562 )
2015
10
Aquagenic syringeal acrokeratoderma. ( 25484422 )
2014
11
Non-steroidal anti-inflammatory drug - induced transient reactive papulotranslucent acrokeratoderma. ( 24653762 )
2014
12
Atypical form of transient reactive papulotranslucent acrokeratoderma in a cystic fibrosis carrier. ( 23379606 )
2013
13
Aquagenic syringeal acrokeratoderma. ( 22128881 )
2012
14
Dermatoscopy as an adjunctive diagnostic tool in aquagenic syringeal acrokeratoderma. ( 22813714 )
2012
15
A localized form of aquagenic syringeal acrokeratoderma. ( 19874341 )
2010
16
Atypical form of transient reactive papulotranslucent acrokeratoderma: a case report and review of the literature. ( 21128920 )
2010
17
Aquagenic syringeal acrokeratoderma in an adult man: case report and review of the literature. ( 20055864 )
2009
18
Aquagenic syringeal acrokeratoderma: unusual prominence on the dorsal aspect of fingers? ( 18503605 )
2008
19
Aquagenic syringeal acrokeratoderma. ( 19119115 )
2008
20
Transient reactive papulotranslucent acrokeratoderma in a 50-year-old woman: case report and review of the literature. ( 18973409 )
2008
21
Unilateral transient reactive papulotranslucent acrokeratoderma in a child. ( 17958817 )
2007
22
Aquagenic syringeal acrokeratoderma: report of a case with histologic findings. ( 16635679 )
2006
23
What is your diagnosis? Aquagenic syringeal acrokeratoderma (ASA). ( 17186786 )
2006
24
Aquagenic syringeal acrokeratoderma. ( 14594600 )
2003
25
Aquagenic syringeal acrokeratoderma (transient reactive papulotranslucent acrokeratoderma). ( 11834842 )
2002
26
Aquagenic syringeal acrokeratoderma: report of two teenage cases. ( 11423847 )
2001
27
Transient reactive papulotranslucent acrokeratoderma associated with cystic fibrosis. ( 10954989 )
2000
28
Transient reactive papulotranslucent acrokeratoderma. ( 8601664 )
1996

Variations for Aquagenic Syringeal Acrokeratoderma

Expression for Aquagenic Syringeal Acrokeratoderma

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

Pathways for Aquagenic Syringeal Acrokeratoderma

GO Terms for Aquagenic Syringeal Acrokeratoderma

Sources for Aquagenic Syringeal Acrokeratoderma

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
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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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