Dyskeratosis congenita physical examination: Difference between revisions
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{{Dyskeratosis congenita}} | {{Dyskeratosis congenita}} | ||
{{CMG}} | {{CMG}} | ||
==Overview== | |||
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. | |||
==Physical Examination== | ==Physical Examination== | ||
===Skin=== | ===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. | * 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. | ||
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* [[Hyperhidrosis]] | * [[Hyperhidrosis]] | ||
* [[Hyperkeratosis]] of the palms and soles | * [[Hyperkeratosis]] of the palms and soles | ||
* [[Adermatoglyphia]] (loss of dermal ridges on fingers and toes) | * [[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. | 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. | ||
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===Mouth=== | ===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]]. | |||
===Lungs=== | |||
* [[Rales]] are heard in those having [[pulmonary fibrosis]]. | |||
===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]]. | ||
===Genitals=== | ===Genitals=== | ||
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* [[Ureteral stenosis]] | * [[Ureteral stenosis]] | ||
=== | ===Other=== | ||
====Female carriers==== | ====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]]. | ||
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====Mucosal findings==== | ====Mucosal findings==== | ||
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). | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
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[[Category:Disease]] | [[Category:Disease]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
Latest revision as of 16:49, 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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American Roentgen Ray Society Images of Dyskeratosis congenita physical examination |
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Risk calculators and risk factors for Dyskeratosis congenita physical examination |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
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.
Physical Examination
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.
Lungs
- Rales are heard in those having pulmonary fibrosis.
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.
Genitals
- Hypospastic testes (small testis),
- Hypospadias
- Ureteral stenosis
Other
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).