Disease Information for Xeroderma pigmentosum

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Clinical Manifestations
Signs & Symptoms
Sun exposed areas/face, arms/involved
Actinic skin lesions present/sign
Dry skin/scaling dry skin
Freckling excess skin/exposed areas
Hyperpigmented patches/sun exposed areas
Increased pigmentation/tanning/hyperpigmented
Mutilating/skin lesions/light exposed areas/face
Patchy pigmentation/face/neck/hands
Photosensitivity/Sunsensitive skin
Pruritis Itching
Scaling/Skin finding
Skin atrophy/Poikiloderma
Equinus Posture/Ankles
Hyporeflexia/DTRs decreased
Low intelligence/Low IQ
Spasticity/Spastic gait
Bloodshot eyes/Conjunctival injection
Photophobia/Light sensitive
Red Eyes Bilateral
Scleral Injection
Typical Clinical Presentation
Presentation/Normal infant/Severe hereditary disease
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Chromosomal abnormality (Lab)
Abnormal Lab Findings - Decreased
Uric acid, serum (Lab)
Abnormal Lab Findings - Increased
URINE Hypoxanthine
Diagnostic Test Results
Other Tests & Procedures
Amniocentesis/Abnormality
Associated Diseases & Rule outs
Rule Outs
Ataxia-telangiectasia
Basal cell carcinoma
Associated Disease & Complications
Actinic keratosis
Basal cell carcinoma
Carcinoma, squamous, skin
Conjunctivitis
Cutaneous angioma/hemangioma
Ectropion, eyelid
Entropion, eyelids
Hyperpigmentation
Keratitis
Keratoacanthoma
Melanoma, malignant
Photosensitivity dermatitis
Phototoxicity
Poikiloderma congenitale
Xeroderma
Xeroderma pigmentosa
Disease Mechanism & Classification
Class
CLASS/Dermatologic/Subcutaneous (category)
CLASS/Brain/CNS disorder (ex)
CLASS/Neurologic (category)
CLASS/Eyelid manifestations/involvement
Pathophysiology
Pathophysiology/DNA transcriptase repair defect
Pathophysiology/Gene locus Chromosome 10
Pathophysiology/Gene locus Chromosome 10q
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Oncogene PRCA1/Locus 10q
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Hereditofamilial (category)
Synonyms
Synonym
Angioma pigmentosum atrophicum, atrophoderma pigmentosum, epitheliomatosis pigmented, Kaposi dermatosis, KAPOSI DIS, KAPOSI DISEASE, KAPOSIS DIS, Kaposis Disease, Kaposi's Disease, lenticularis progressiva melanosis, melanosis lenticularis progressiva, pigmentation congenital xeroderma pigmentosum, Pigmented Epitheliomatosis, pigmentosum atrophoderma, pigmentosum xeroderma, Xeroderma of Kaposi, xeroderma pigmentosum, Xeroderma pigmentosum (disorder), Xeroderma pigmentosum syndrome, XP Xeroderma pigmentosum, Early Onset Ataxia/Children
Treatment
Other Treatments
TX/Expectant/supportive treatment.
Definition

A genetic condition characterized by a sensitivity to all sources of ultraviolet radiation.

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External Links Related to Xeroderma pigmentosum
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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