X-linked ichthyosis with steryl-sulfatase deficiency

Common Name(s)

X-linked ichthyosis with steryl-sulfatase deficiency

Ichthyosis is a genetically heterogeneous disorder of the skin. See, e.g., autosomal dominant ichthyosis vulgaris ({146700}), which is caused by mutations in the filaggrin gene (FLG; {135940}). Ichthyosis can also be observed in multiple sulfatase deficiency ({272200}) ({76:Shapiro, 1977}). X-linked ichthyosis is fundamentally the same disorder as placental steroid sulfatase deficiency, which is often first noted in the pregnant mother of affected males by decreased estrogen or delayed progression of parturition ({2:Alperin and Shapiro, 1997}). This is thus an example of affinity ('lumping') of phenotypes thought previously to be separate, the opposite of genetic heterogeneity. {74:Schnyder (1970)} gave a useful classification of the inherited ichthyoses. {41:Hernandez-Martin et al. (1999)} provided a comprehensive review of X-linked ichthyosis. They pointed out that among all genetic disorders X-linked ichthyosis shows one of the highest ratios of chromosomal deletions; complete deletion has been found in up to 90% of patients.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "X-linked ichthyosis with steryl-sulfatase deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "X-linked ichthyosis with steryl-sulfatase deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "X-linked ichthyosis with steryl-sulfatase deficiency" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "X-linked ichthyosis with steryl-sulfatase deficiency" returned 0 free, full-text review articles on human participants.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

A Phase 1 Study of MEDI4736 in Combination With Tremelimumab in Subjects With Advanced Solid Tumors
 

Status: Recruiting

Condition Summary: Bladder Cancer; Lung Cancer; Small Cell Lung Cancer; Small-cell Lung Cancer; SCLC; Soft-tissue Sarcoma; Sarcoma; STS; Breast Cancer; Triple Negative Breast Cancer; Triple-negative Breast Cancer; TNBC; Human Papilloma Virus-positive Anogenital Cancer; HPV-positive Anogenital Cancer; Anal Cancer; Cervical Cancer; Vaginal Cancer

 

Last Updated: 20 Oct 2014

Go to URL
STS/ACC Transcatheter Valve Therapy Registry (TVT Registry)
 

Status: Recruiting

Condition Summary: Aortic Valve Stenosis

 

Last Updated: 27 Dec 2012

Go to URL
Contribution of F18-FDG PET/CT to the Early Assessment of Pazopanib Therapy Efficacy in Advanced Soft Tissue Sarcoma
 

Status: Not yet recruiting

Condition Summary: Soft Tissue Sarcoma (STS)

 

Last Updated: 7 May 2012

Go to URL