Dyskeratosis congenita physical examination: Difference between revisions
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* [[Excessive tearing]] | * [[Excessive tearing]] | ||
* [[Red eyes]] | * [[Red eyes]] | ||
===Mouth=== | |||
* [[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]]. | |||
===Abdomen=== | ===Abdomen=== | ||
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* Low IQ | * Low IQ | ||
* Patients may have learning difficulties and [[mental retardation]]. | * Patients may have learning difficulties and [[mental retardation]]. | ||
===Lungs=== | ===Lungs=== | ||
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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]]. | 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]]. | ||
====Mucosal findings==== | |||
Other mucosal sites may be involved (e.g., esophagus, urethral meatus, glans penis, lacrimal duct, conjunctiva, vagina, anus). | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Revision as of 16:38, 6 June 2013
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Dyskeratosis congenita Microchapters |
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Dyskeratosis congenita physical examination On the Web |
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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.
Eyes
Mouth
- 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.
Abdomen
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.
Neurologic
- Low IQ
- Patients may have learning difficulties and mental retardation.
Lungs
- Rales are heard in those having pulmonary fibrosis.
Genitals
- Hypospastic testes (small testis),
- Hypospadias
- Ureteral stenosis
Others
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.
Mucosal findings
Other mucosal sites may be involved (e.g., esophagus, urethral meatus, glans penis, lacrimal duct, conjunctiva, vagina, anus).
References