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7 results
  1. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... affected individuals have an increased sensitivity to sunlight (photosensitivity), and in some cases even a small amount of sun exposure can cause a sunburn or blistering of the skin. Other signs and symptoms often include hearing loss, vision loss, severe tooth ...
  2. Xeroderma Pigmentosum - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1397
    ... are recommended. Table 6. Recommended Evaluations Following Initial Diagnosis in Individuals with Xeroderma Pigmentosum View in own window System/Concern Evaluation Comment Photosensitivity & accelerated photoaging Baseline exam of skin (incl all sun-exposed as well as sun-shielded areas) Look ...
  3. Contact dermatitis 
    https://medlineplus.gov/ency/article/000869.htm
    ... only when the skin is also exposed to sunlight (photosensitivity). These ... nail lacquer, or insecticide spray, can also cause contact dermatitis.
  4. Chronic Granulomatous Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK99496
    ... Clinical Characteristics Comment Allergic bronchopulmonary aspergillosis (ABPA) Pulmonary hypersensitivity reaction to Aspergillus fumigatus & other molds; most commonly seen in asthmatics & persons w/cystic fibrosis Diagnosis of ABPA is based on history, ↑ serum concentration ...
  5. Dictionary of Cancer Terms - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65951
    ... deficient DNA mismatch repair deficient mismatch repair definitive diagnosis definitive treatment Defitelio degarelix acetate degenerative disease dehydration dehydroepiandrosterone delayed-type hypersensitivity response deleterious mutation deletion 17p delirium demeclocycline hydrochloride ...
  6. Poikiloderma with Neutropenia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK459118
    ... and congenital chronic neutropenia). Unequivocal confirmation of the diagnosis of ... bland emollients. Diligent sun protection with both UVA and UVB protection and/ ...
  7. Autosomal Recessive Congenital Ichthyosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1420
    ... Philipp et al [2020] , Simpson et al [2020] , Sun et al [2022] 3. Does not represent the ... Philipp et al 2020 , Simpson et al 2020 , Sun et al 2022 ]. Pathogenic variants have not been ...