Dyskeratosis congenita physical examination: Difference between revisions
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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. | 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=== | |||
* [[Excessive tearing]] | |||
* [[Red eyes]] | |||
===Abdomen=== | |||
* [[Esophageal webs]] | |||
* [[Hepatosplenomegaly]] | |||
===Extremities=== | ===Extremities=== | ||
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* Absent nails - in advanced disease. | * Absent nails - in advanced disease. | ||
=== | ===Neurologic=== | ||
* Low IQ | |||
* Patients may have learning difficulties and [[mental retardation]]. | |||
===Mouth=== | |||
* [[Mucosal leukoplakia]] - occurs in approximately 80% of patients and typically involves the buccal mucosa, tongue, and oropharynx. | * [[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]]. | 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). | Other mucosal sites may be involved (e.g., esophagus, urethral meatus, glans penis, lacrimal duct, conjunctiva, vagina, anus). | ||
=== | ===Lungs=== | ||
* [[Rales]] are heard in those having [[pulmonary fibrosis]]. | * [[Rales]] are heard in those having [[pulmonary fibrosis]]. | ||
=== | ===Genitals=== | ||
* [[Hypospastic testes]] (small testis), | * [[Hypospastic testes]] (small testis), | ||
* [[Hypospadias]] | * [[Hypospadias]] | ||
* [[Ureteral stenosis]] | * [[Ureteral stenosis]] | ||
===Female carriers=== | ===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]]. | 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]]. | ||
Revision as of 16:35, 6 June 2013
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Dyskeratosis congenita Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Dyskeratosis congenita physical examination On the Web |
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American Roentgen Ray Society Images of Dyskeratosis congenita physical examination |
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Risk calculators and risk factors for Dyskeratosis congenita physical examination |
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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
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.
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. Other mucosal sites may be involved (e.g., esophagus, urethral meatus, glans penis, lacrimal duct, conjunctiva, vagina, anus).
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.
References