Dyskeratosis congenita physical examination

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 physical examination On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Dyskeratosis congenita physical examination 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 physical examination
CDC on Dyskeratosis congenita physical examination
Dyskeratosis congenita physical examination in the news
Blogs on Dyskeratosis congenita physical examination
Directions to Hospitals Treating Dyskeratosis congenita
Risk calculators and risk factors for Dyskeratosis congenita physical examination

Please help WikiDoc by adding content more here. It's easy! Click here to learn about editing.

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Physical Examination

The triad of reticulated hyperpigmentation of the skin, nail dystrophy, and leukoplakia characterizes DKC. The syndrome is clinically heterogeneous; in addition to the diagnostic mucocutaneous features and bone marrow failure, affected individuals can have a variety of other clinical features.

Skin

• Abnormal skin pigmentation - tan to gray hyperpigmented or hypopigmented macules and patches in a mottled or reticulated pattern. Reticulated pigmentation occurs in approximately 90% of patients.
• Poikilodermatous changes with atrophy and telangiectasia are common.
• Alopecia of the scalp, eyebrows, and eyelashes
• Premature graying of the hair
• Hyperhidrosis
• Hyperkeratosis of the palms and soles
• Adermatoglyphia (loss of dermal ridges on fingers and toes).

The cutaneous presentation may clinically and histologically resemble graft versus host disease. The typical distribution involves the sun-exposed areas, including the upper trunk, neck, and face.

Extremities

• Nail dystrophy (ridging and longitudinal splitting) - seen in approximately 90% of patients, with fingernail involvement often preceding toenail involvement.
• Absent nails - in advanced disease.

Mucosal findings

• Mucosal leukoplakia - occurs in approximately 80% of patients and typically involves the buccal mucosa, tongue, and oropharynx.

Patients also may have an increased prevalence and severity of periodontal disease. Other mucosal sites may be involved (e.g., esophagus, urethral meatus, glans penis, lacrimal duct, conjunctiva, vagina, anus).

Respiratory

• Rales are heard in those having pulmonary fibrosis.

Neurologic

• Low IQ
• Patients may have learning difficulties and mental retardation.

Eye

• Excessive tearing
• Red eyes

Abdomen

• Esophageal webs
• Hepatosplenomegaly

Genitourinary system findings

• Hypospastic testes (small testis),
• Hypospadias
• Ureteral stenosis

Female carriers

Female carries of DKC may have subtle clinical features. One study showed that 3 of 20 female carriers had clinical features that included a single dystrophic nail, a patch of hypopigmentation, or mild leukoplakia.