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Description

Xeroderma pigmentosum (XP), a rare and enigmatic condition, has recently emerged as a focal point in the intersection of dermatology and nucleotide excision repair. Historically, physicians have been primarily concerned the dermatological aspects of classical XP. However, there remains an opaque awareness of the remaining manifestations as they relate to the clinical setting, as well as diagnosis and treatment. We aim to provide a comprehensive overview of the current knowledge regarding the interplay between XP and the symptoms that require further investigation. To that end, we reviewed several studies and evaluated the action key manifestations of XP, aside from dermatological symptoms, and discussed the mechanisms of and potential consequences. The musculoskeletal, endocrine, ophthalmic, and nervous systems, among others, are crucial lenses through which XP is being investigated. Furthermore, these symptoms intersect with the premature aging of the cell, which catalyzes the remaining manifestations such as the predisposition to premature menopause. A thorough examination of these topics' involvement in XP sheds light on novel pathways and treatment modalities.

Disciplines

Skin and Connective Tissue Diseases

Keywords

Xeroderma Pigmentosum

Document Type

Poster

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Xeroderma Pigmentosum: A Review of Non-Classical Symptoms

Xeroderma pigmentosum (XP), a rare and enigmatic condition, has recently emerged as a focal point in the intersection of dermatology and nucleotide excision repair. Historically, physicians have been primarily concerned the dermatological aspects of classical XP. However, there remains an opaque awareness of the remaining manifestations as they relate to the clinical setting, as well as diagnosis and treatment. We aim to provide a comprehensive overview of the current knowledge regarding the interplay between XP and the symptoms that require further investigation. To that end, we reviewed several studies and evaluated the action key manifestations of XP, aside from dermatological symptoms, and discussed the mechanisms of and potential consequences. The musculoskeletal, endocrine, ophthalmic, and nervous systems, among others, are crucial lenses through which XP is being investigated. Furthermore, these symptoms intersect with the premature aging of the cell, which catalyzes the remaining manifestations such as the predisposition to premature menopause. A thorough examination of these topics' involvement in XP sheds light on novel pathways and treatment modalities.