Bart Pumphrey syndrome

Common Name(s)

Bart Pumphrey syndrome

Bart-Pumphrey syndrome is a rare genetic (inherited) condition characterized by nail and skin abnormalities and hearing loss. Individuals with this condition have white nail discoloration (leukonychia) and the nails may also be thick and crumbly. In addition, they have wart-like growths on the knuckles of their fingers and toes (knuckle pads). They may also have thickening of the skin of the palms of hands and soles of feet called palmoplantar keratoderma. The skin findings seen in Bart-Pumphrey often appear during childhood however the hearing loss, which can be moderate to severe, is usually congenital or present at birth. Though almost all affected individuals have hearing loss, the skin findings may vary even within multiple affected family members.

Bart-Pumphrey syndrome is inherited (passed through families) in an autosomal dominant manner. We inherit our genes in pairs, one from each parent typically. Our genes are what control the growth, development and function of our bodies. If a mistake or error occurs in a gene, it can cause problems. Autosomal dominant means that if one parent has the condition (therefore the mutation) there is a 50% chance that they will pass it on to each of their children. However, sometimes the mutation or change is sporadic or new (de novo), meaning it occurred when the egg or sperm was being made in one parent. Neither parent therefore would have the condition but the individual affected with the condition now has a 50% chance of passing it to their own children. In most documented cases of Bart-Pumphrey, the affected individuals have an affected parent, though some cases are reported as de novo. Talk with a genetic counselor or specialist if you have been diagnosed with Bart-Pumphrey.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Bart Pumphrey syndrome" for support, advocacy or research.

Foundation for Ichthyosis and Related Skin Types, Inc.

The Foundation's mission is to educate, inspire, and connect those touched by ichthyosis and related disorders through emotional support, information, advocacy and research funding for better treatments and eventual cures.

Last Updated: 15 Jul 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Bart Pumphrey syndrome" for support, advocacy or research.

Foundation for Ichthyosis and Related Skin Types, Inc.

The Foundation's mission is to educate, inspire, and connect those touched by ichthyosis and related disorders through emotional support, information, advocacy and research funding for better treatments and eventual cures.

http://www.firstskinfoundation.org

Last Updated: 15 Jul 2015

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General Support Organizations

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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 "Bart Pumphrey syndrome" returned 3 free, full-text research articles on human participants. First 3 results:

A family of Bart-Pumphrey syndrome.
 

Author(s): Müzeyyen Gönül, Ülker Gül, Pelin Hizli, Ömer Hizli

Journal: Indian J Dermatol Venereol Leprol. ;78(2):178-81.

 

Bart-Pumphrey syndrome (BPS) is an autosomal-dominant disorder characterized by hearing loss, leukonychia, knuckle pads and palmoplantar keratoderma. Two mutations in the extracellular domain of GBJ2 are resposible for this syndrome. To date, less than 10 case reports or clinical ...

Last Updated: 16 Mar 2012

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Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.
 

Author(s): Gabriele Richard, Nkecha Brown, Akemi Ishida-Yamamoto, Alfons Krol

Journal: J. Invest. Dermatol.. 2004 Nov;123(5):856-63.

 

Bart-Pumphrey syndrome (BPS) is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, which show considerable phenotypic variability. The clinical features partially overlap with Vohwinkel syndrome and ...

Last Updated: 14 Oct 2004

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Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome.
 

Author(s): J C Ramer, D B Vasily, R L Ladda

Journal: J. Med. Genet.. 1994 Jan;31(1):68-71.

 

A family with five members who have variable findings of leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis is described. The findings in these subjects are compared with those noted in previously reported patients with Bart-Pumphrey syndrome. The range of disorders ...

Last Updated: 10 May 1994

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Bart Pumphrey syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.