Dyskeratosis congenita: Difference between revisions

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{{CMG}}
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{{Dyskeratosis congenita}}
'''For patient information, click [[Dyskeratosis congenita (patient information)|here]].'''
 
{{CMG}} {{AE}} {{RT}}
 
{{SK}} Cole-Rauschkolb-Toomey syndrome; DKCX; X-linked dyskeratosis congenita; Zinsser-Cole-Engman syndrome; Zinsser-Engman-Cole syndrome
 
==[[Dyskeratosis congenita overview|Overview]]==
 
==[[Dyskeratosis congenita historical perspective|Historical Perspective]]==
 
==[[Dyskeratosis congenita classification|Classification]]==
 
==[[Dyskeratosis congenita pathophysiology|Pathophysiology]]==
 
==[[Dyskeratosis congenita causes| Causes]]==
 
==[[Dyskeratosis congenita differential diagnosis|Differentiating Dyskeratosis Congenita from other Diseases]]==
 
==[[Dyskeratosis congenita epidemiology and demographics|Epidemiology and Demographics]]==
 
==[[Dyskeratosis congenita risk factors|Risk Factors]]==
 
==[[Dyskeratosis congenita screening|Screening]]==
 
==[[Dyskeratosis congenita natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
 
==Diagnosis==
[[Dyskeratosis congenita history and symptoms|History and Symptoms]] | [[Dyskeratosis congenita physical examination|Physical Examination]] | [[Dyskeratosis congenita laboratory findings|Laboratory Findings]] | [[Dyskeratosis congenita electrocardiogram|Electrocardiogram]] | [[Dyskeratosis congenita x ray|X Ray]] | [[Dyskeratosis congenita CT|CT]] | [[Dyskeratosis congenita MRI|MRI]] | [[Dyskeratosis congenita echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Dyskeratosis congenita other imaging findings|Other Imaging Findings]] | [[Dyskeratosis congenita other diagnostic studies|Other Diagnostic Studies]]
 
==Treatment==
[[Dyskeratosis congenita medical therapy|Medical Therapy]] | [[Dyskeratosis congenita surgery|Surgery]] | [[Dyskeratosis congenita primary prevention|Primary Prevention]] | [[Dyskeratosis congenita secondary prevention|Secondary Prevention]] | [[Dyskeratosis congenita cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Dyskeratosis congenita future or investigational therapies|Future or Invesetigational Therapies]]
 
==Case Studies==
[[Dyskeratosis congenita case study one|Case #1]]
 
==External Links==
* [http://www.marrowfailure.cancer.gov/index.html Dyskeratosis Congenita research study of Inherited Bone Marrow Failure Syndromes (IBMFS) ]
 
{{Congenital malformations and deformations of integument}}
{{X-linked disorders}}
 
 
[[Category:Disease]]
[[Category:Rare diseases]]
 


{{EH}}


'''Dyskeratosis congenita''' (DKC) is a rare progressive [[bone marrow]] failure syndrome characterized by cutaneous pigmentation, [[dystrophy]] of the [[nail (anatomy)|nail]]s, [[leukoplakia]] of the oral mucosa, continuous lacrimation due to [[atresia]] of the [[lacrimal duct]]s, often [[thrombocytopenia]], anemia and in most cases [[testicular atrophy]]. People afflicted with this are also highly susceptible to developing cancer.
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[[Category:Disease]]

Latest revision as of 17:41, 15 February 2015

Dyskeratosis congenita Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Dyskeratosis Congenita from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Dyskeratosis congenita On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Dyskeratosis congenita

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Dyskeratosis congenita

CDC on Dyskeratosis congenita

Dyskeratosis congenita in the news

Blogs on Dyskeratosis congenita

Directions to Hospitals Treating Dyskeratosis congenita

Risk calculators and risk factors for Dyskeratosis congenita

For patient information, click here.

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]

Synonyms and keywords: Cole-Rauschkolb-Toomey syndrome; DKCX; X-linked dyskeratosis congenita; Zinsser-Cole-Engman syndrome; Zinsser-Engman-Cole syndrome

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Dyskeratosis Congenita from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | X Ray | CT | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies

Treatment

Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Invesetigational Therapies

Case Studies

Case #1

External Links

Template:Congenital malformations and deformations of integument Template:X-linked disorders


Template:WH Template:WS