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- Disease Information
- Disease Comparison
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Disease Processes ▼
- Auto Immune
- Vascular-Arteriosclerosis
- Biochemical
- Congenital-developmental
- Deficiency
- Degenrative-Necrosis
- Electromagnetic-Physics
- Eponymic
- Functional-Physiologic
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- Idiopathic
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- Trauma
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Major Organs-Systems ▼
- Systemic
- Pediatric
- Nervous & Sensory System (Neurology)
- Cardiovascular System
- Respiratory (Pulmonary) System
- Gastro-Intestinal (Digestive) System
- Urinary System
- Dermatologic System
- Endocrine System
- Immune System
- Musculoskeletal System
- Genital Reproductive System
- Hematopoietic System (Hematology)
- Lymphatic System
- Tissue/Cells/Organelles
Disease Information for Xeroderma pigmentosum
- 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
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A genetic condition characterized by a sensitivity to all sources of ultraviolet radiation.
(Edit)
- External Links Related to Xeroderma pigmentosum
- 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)