MCID: AQG003
MIFTS: 14

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 53
Transient Reactive Papulotranslucent Acrokeratoderma 53 59
Aquagenic Palmoplantar Keratoderma 53 59
Aquagenic Wrinkling of the Palms 53 59
Aquagenic Keratoderma 53 59
Aquagenic Syringeal Acrokeratoderma 59
Aquagenic Wrinkling of the Hands 53

Classifications:

Orphanet: 59  
Rare skin diseases


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Orphanet 59 ORPHA498359

Summaries for Aquagenic Syringeal Acrokeratoderm

NIH Rare Diseases : 53 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 wrinkles and palmoplantar keratosis. 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 wrinkles 10.6
2 palmoplantar keratosis 10.5
3 cystic fibrosis 10.0

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:

41
Skin

Publications for Aquagenic Syringeal Acrokeratoderm

Articles related to Aquagenic Syringeal Acrokeratoderm:

# Title Authors Year
1
Non-steroidal anti-inflammatory drug - induced transient reactive papulotranslucent acrokeratoderma. ( 24653762 )
2014
2
Atypical form of transient reactive papulotranslucent acrokeratoderma in a cystic fibrosis carrier. ( 23379606 )
2013
3
Atypical form of transient reactive papulotranslucent acrokeratoderma: a case report and review of the literature. ( 21128920 )
2010
4
Transient reactive papulotranslucent acrokeratoderma in a 50-year-old woman: case report and review of the literature. ( 18973409 )
2008
5
Unilateral transient reactive papulotranslucent acrokeratoderma in a child. ( 17958817 )
2007

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 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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