Xeroderma pigmentosum

Xeroderma pigmentosum

Genomics

Genomics

Amino acids and protein folding
Protein structure and synthesis
Mitosis and meiosis
DNA replication
Cell cycle
Transcription of DNA
Nuclear structure
DNA structure
DNA damage and repair
Translation of mRNA
Nucleotide metabolism
DNA mutations
Evolution and natural selection
Oncogenes and tumor suppressor genes
Retinoblastoma
von Hippel-Lindau disease
Li-Fraumeni syndrome
Bloom syndrome
Inheritance patterns
Independent assortment of genes and linkage
Mendelian genetics and punnett squares
Hardy-Weinberg equilibrium
DNA cloning
Karyotyping
ELISA (Enzyme-linked immunosorbent assay)
Polymerase chain reaction (PCR) and reverse-transcriptase PCR (RT-PCR)
Fluorescence in situ hybridization
Gel electrophoresis and genetic testing
Epigenetics
Gene regulation
Lac operon
Autosomal trisomies: Pathology review
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)
Klinefelter syndrome
Turner syndrome
Routine prenatal care: Clinical
Miscellaneous genetic disorders: Pathology review
Fragile X syndrome
Huntington disease
Myotonic dystrophy
Fabry disease (NORD)
Prader-Willi syndrome
Angelman syndrome
Cri du chat syndrome
Williams syndrome
Atrophy, aplasia, and hypoplasia
DiGeorge syndrome
Potter sequence
Cystic fibrosis
Tay-Sachs disease (NORD)
Hemochromatosis
Alpha 1-antitrypsin deficiency
Spinal muscular atrophy
Neurofibromatosis
Marfan syndrome
Ehlers-Danlos syndrome
Muscular dystrophies and mitochondrial myopathies: Pathology review
Muscular dystrophy
Mitochondrial myopathy
Prevention
Breast cancer: Clinical
Breast cancer: Pathology review
Breast cancer
Benign breast conditions: Pathology review
Estrogens and antiestrogens
Aromatase inhibitors
Colorectal cancer: Clinical
Colorectal polyps and cancer: Pathology review
Colorectal cancer
Colorectal polyps
Familial adenomatous polyposis
Peutz-Jeghers syndrome
Juvenile polyposis syndrome
Ovarian cysts, cancer, and other adnexal masses: Clinical
Ovarian cysts and tumors: Pathology review
Ovarian cyst
Ovarian surface epithelial tumors
Ovarian germ cell tumors
Ovarian sex-cord stromal tumors
Anticoagulants: Warfarin
Acute radiation syndrome
Friedreich ataxia
Beckwith-Wiedemann syndrome
Achondroplasia
Hereditary spherocytosis
Alagille syndrome (NORD)
Polycystic kidney disease
Multiple endocrine neoplasia
Tuberous sclerosis
Familial hypercholesterolemia
Albinism
Niemann-Pick disease types A and B (NORD)
Leukodystrophy
Glycogen storage disease type V
Glycogen storage disease type II (NORD)
Sickle cell disease (NORD)
Alpha-thalassemia
Beta-thalassemia
Phenylketonuria (NORD)
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Glycogen storage disease type III
Gaucher disease (NORD)
Niemann-Pick disease type C
Krabbe disease
Glycogen storage disease type IV
Glycogen storage disease type I
Wilson disease
Primary ciliary dyskinesia
Fanconi anemia
McCune-Albright syndrome
Xeroderma pigmentosum
Alport syndrome
Wiskott-Aldrich syndrome
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
X-linked agammaglobulinemia
Hemophilia
Ornithine transcarbamylase deficiency
Lesch-Nyhan syndrome
Adenosine deaminase deficiency
Orotic aciduria
Sturge-Weber syndrome

Flashcards

Xeroderma pigmentosum

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Key Takeaways

Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder that affects the body's ability to repair damage to DNA caused by ultraviolet (UV) radiation. Individuals with XP are extremely sensitive to UV radiation and are at a high risk for developing skin cancers like basal cell carcinoma, squamous cell carcinoma, and melanoma. They may also develop eye problems, including photophobia, conjunctivitis, and corneal ulcers. Symptoms of XP can include dry, scaly, and pigmented skin, and uneven pigmentation. In severe cases, neurological symptoms such as developmental delay, progressive hearing loss, and cognitive impairment can also occur. Treatment primarily focuses on preventing(avoiding exposure to UV radiation by staying indoors, wearing protective clothing and sunscreen, and using protective eyewear) and managing symptoms.