Degos Disease

Common Name(s)

Degos Disease, Malignant Atrophic Papulosis, Kohlmeier-Degos

Degos disease is a rare blood vessel disorder. It is characterized by blockages of small to medium sized blood vessels.  This slows or stops the flow of blood through the affected vessels. Severity of symptoms depends on the extent and location of the affected blood vessels. Some individuals with Degos disease have isolated skin involvement and develop porcelain-white macules on their skin. Other individuals have more wide spread disease. Multiorgan disease can become life threatening. The cause of this condition is currently unknown.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Degos Disease" for support, advocacy or research.

Degos Disease Network

The Degos Patients' Support Network is a contact group, a support group and an information hub for those affected by Degos disease. Medical professionals who are seeking help will find information, links to medical sites and to ongoing research. As Degos disease is an extremely rare disease, we welcome input from those affected by it.

Last Updated: 20 Jan 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Degos Disease" for support, advocacy or research.

Degos Disease Network

The Degos Patients' Support Network is a contact group, a support group and an information hub for those affected by Degos disease. Medical professionals who are seeking help will find information, links to medical sites and to ongoing research. As Degos disease is an extremely rare disease, we welcome input from those affected by it.

http://www.degosdisease.com

Last Updated: 20 Jan 2013

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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 "Degos Disease" returned 25 free, full-text research articles on human participants. First 3 results:

Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.
 

Author(s): F Buket Basmanav, Ana-Maria Oprisoreanu, Sandra M Pasternack, Holger Thiele, Günter Fritz, Jörg Wenzel, Leopold Größer, Maria Wehner, Sabrina Wolf, Christina Fagerberg, Anette Bygum, Janine Altmüller, Arno Rütten, Laurent Parmentier, Laila El Shabrawi-Caelen, Christian Hafner, Peter Nürnberg, Roland Kruse, Susanne Schoch, Sandra Hanneken, Regina C Betz

Journal: Am. J. Hum. Genet.. 2014 Jan;94(1):135-43.

 

Dowling-Degos disease (DDD) is an autosomal-dominant genodermatosis characterized by progressive and disfiguring reticulate hyperpigmentation. We previously identified loss-of-function mutations in KRT5 but were only able to detect pathogenic mutations in fewer than half of our subjects. ...

Last Updated: 6 Jan 2014

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Follicular Dowling Degos disease: a rare variant of an evolving dermatosis.
 

Author(s): Saurabh Singh, Sujay Khandpur, Parul Verma, Manoj Singh

Journal: Indian J Dermatol Venereol Leprol. ;79(6):802-4.

 

Dowling Degos disease is a rare, reticulate pigmentary disorder with variable phenotypic expression that manifests as hyperpigmented macules and reticulate pigmentary anomaly of the flexures. Many variants of this condition and its overlap with other reticulate pigmentary disorders ...

Last Updated: 1 Nov 2013

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Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease.
 

Author(s): Ming Li, Ruhong Cheng, Jianying Liang, Heng Yan, Hui Zhang, Lijia Yang, Chengrang Li, Qingqing Jiao, Zhiyong Lu, Jianhui He, Jin Ji, Zhu Shen, Chunqi Li, Fei Hao, Hong Yu, Zhirong Yao

Journal: Am. J. Hum. Genet.. 2013 Jun;92(6):895-903.

 

Dowling-Degos disease (DDD), or reticular pigmented anomaly of the flexures, is a type of rare autosomal-dominant genodermatosis characterized by reticular hyperpigmentation and hypopigmentation of the flexures, such as the neck, axilla, and areas below the breasts and groin, and ...

Last Updated: 19 Nov 2013

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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 "Degos Disease" returned 4 free, full-text review articles on human participants. First 3 results:

Malignant atrophic papulosis (Köhlmeier-Degos disease) - a review.
 

Author(s): Athanasios Theodoridis, Evgenia Makrantonaki, Christos C Zouboulis

Journal:

 

DEFINITION OF THE DISEASE: Malignant atrophic papulosis (MAP), described independently by Köhlmeier and Degos et al., is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and surrounding teleangiectatic rim.

Last Updated: 8 Feb 2013

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Dowling-Degos disease involving the vulva and back: case report and review of the literature.
 

Author(s): Mary E Horner, Katherine E Parkinson, Valda Kaye, Peter J Lynch

Journal:

 

Dowling-Degos disease is a rarely encountered pigmentary disorder in which small brown-to-black macules appear in a clustered or reticulated pattern primarily at flexural sites. It usually occurs as an autosomal dominant trait but sporadic cases have also been reported. Dowling-Degos ...

Last Updated: 3 Aug 2011

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[Degos' disease: A case report and review of literature].
 

Author(s): Xian-wei Wang, Xi Liu, Zhen Zeng, Yi-xiong Li

Journal: Beijing Da Xue Xue Bao. 2009 Aug;41(4):487-8.

 

A 18-year-old male patient's case was diagnosed as Degos'disease with pathognomonic skin lesions, accompanied by small bowel perforation, and reported here. Skin histopothological test show that the typical wedge-shaped necrobiosis and lymphocyte inflammatory infiltration. Vessels ...

Last Updated: 3 Sep 2009

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.