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Drugs in Context 2022Early recognition of xeroderma pigmentosum is important to minimize the complications arising from the harmful effects of exposure to ultraviolet radiation. This... (Review)
Review
BACKGROUND
Early recognition of xeroderma pigmentosum is important to minimize the complications arising from the harmful effects of exposure to ultraviolet radiation. This narrative review aims to familiarize physicians with the clinical features, diagnosis and management of xeroderma pigmentosum.
METHODS
A search was conducted in December 2021 in PubMed Clinical Queries using the key term "xeroderma pigmentosum". The search strategy included all clinical trials, observational studies and reviews published within the past 10 years. The information retrieved from the search was used in the compilation of this article.
RESULTS
Xeroderma pigmentosum is a condition of abnormal DNA repair of ultraviolet radiation-induced and oxidative DNA damage, which leads to increased skin cancer susceptibility. Approximately 50% of patients with xeroderma pigmentosum have increased photosensitivity and certain types of xeroderma pigmentosum are more prone to ocular disease and progressive neurodegeneration depending on the causative mutation. The diagnosis should be suspected in patients with increased photosensitivity and characteristic cutaneous, ophthalmological and neurological findings. A definite diagnosis can be made by the identification of biallelic mutation in one of the causative genes. Strict and consistent sun avoidance and protection and early detection and treatment of premalignant and malignant skin lesions are the mainstays of management. Treatment options for actinic keratosis include cryotherapy, topical imiquimod, topical 5-fluorouracil, chemical peeling, excision, CO laser resurfacing, fractional/pulsed laser therapy, and photodynamic therapy. Cutaneous malignancy can be treated by photodynamic therapy, curettage and electrodesiccation, or surgical excision. Oral isotretinoin, oral niacinamide, topical imiquimod and topical fluorouracil can be used for the prevention of skin malignancy. Treatment options for poikiloderma include chemical peeling, dermabrasion and laser resurfacing. Methylcellulose eyedrops and soft ultraviolet-protective contact lenses may be used to keep the cornea moist and protect against the harmful effects of keratitis sicca. Investigational therapies include the use of T4 endonuclease-V liposome lotion and oral nicotinamide to reduce the rate of actinic keratoses and non-melanoma skin cancers and gene therapy for radical cure of this condition.
CONCLUSION
Although currently there is no cure for xeroderma pigmentosum, increased awareness and early diagnosis of the condition, followed by rigorous sun avoidance and protection and optimal management, can dramatically improve the quality of life and life expectancy.
PubMed: 35520754
DOI: 10.7573/dic.2022-2-5 -
The Yale Journal of Biology and Medicine Jun 2015Basal cell carcinoma (BCC) is the most common malignancy. Exposure to sunlight is the most important risk factor. Most, if not all, cases of BCC demonstrate overactive... (Review)
Review
Basal cell carcinoma (BCC) is the most common malignancy. Exposure to sunlight is the most important risk factor. Most, if not all, cases of BCC demonstrate overactive Hedgehog signaling. A variety of treatment modalities exist and are selected based on recurrence risk, importance of tissue preservation, patient preference, and extent of disease. The pathogenesis, epidemiology, clinical features, diagnosis, histopathology, and management of BCC will be discussed in this review.
Topics: Antineoplastic Agents; Carcinoma, Basal Cell; Case Management; Combined Modality Therapy; Debridement; Environmental Exposure; Humans; Mohs Surgery; Prevalence; Risk Factors; Skin Neoplasms; Sunlight
PubMed: 26029015
DOI: No ID Found -
American Family Physician Sep 2020Keratinocyte carcinoma, traditionally referred to as nonmelanoma skin cancer, includes basal cell and cutaneous squamous cell carcinoma and is the most common skin... (Review)
Review
Keratinocyte carcinoma, traditionally referred to as nonmelanoma skin cancer, includes basal cell and cutaneous squamous cell carcinoma and is the most common skin cancer malignancy found in humans. The U.S. Preventive Services Task Force recommends counseling about minimizing exposure to ultraviolet radiation for people aged six months to 24 years with fair skin types to decrease their risk of skin cancer. Routine screening for skin cancer is controversial. The U.S. Preventive Services Task Force concludes that current evidence is insufficient to assess the balance of benefits and harms of a routine whole-body skin examination to screen for skin cancer. Basal cell carcinoma commonly appears as a shiny, pearly papule with a smooth surface, rolled borders, and arborizing telangiectatic surface vessels. Cutaneous squamous cell carcinoma commonly appears as a firm, smooth, or hyperkeratotic papule or plaque, and may have central ulceration. Initial tissue sampling for diagnosis is a shave technique if the lesion is raised, or a punch biopsy of the most abnormal-appearing area of skin. High-risk factors for recurrence and metastasis include prior tumors, ill-defined borders, aggressive histologic patterns, and perineural invasion. Mohs micrographic surgery has the lowest recurrence rate among treatments but is best considered for large, high-risk tumors or tumors in sensitive anatomic locations. Smaller, lower-risk tumors are treated with surgical excision, electrodesiccation and curettage, or cryotherapy. Topical imiquimod and fluorouracil are also treatment options for superficial basal cell carcinoma and squamous cell carcinoma in situ. There are no clear guidelines for follow up after an index keratinocyte carcinoma, but monitoring for recurrence is important because the five-year risk of subsequent skin cancer is 41%. After more than one diagnosis, the five-year risk increases to 82%.
Topics: Carcinoma, Basal Cell; Carcinoma, Squamous Cell; Family Practice; Humans; Mohs Surgery; Practice Patterns, Physicians'; Skin Neoplasms
PubMed: 32931212
DOI: No ID Found -
Proceedings (Baylor University. Medical... 2022Syringomas on the vulvar skin are relatively rare and generally bilateral. They are usually asymptomatic but can be symptomatic, with vulvar discomfort, burning, and/or...
Syringomas on the vulvar skin are relatively rare and generally bilateral. They are usually asymptomatic but can be symptomatic, with vulvar discomfort, burning, and/or pruritus. Management options include topical steroids, topical retinoids, and oral antihistamines. Cases refractory to conservative treatment may require procedural intervention, such as cryotherapy, excision, or electrosurgery. Here we describe a case of symptomatic vulvar syringomas refractory to medical management that were successfully treated with electrodessication and curettage.
PubMed: 34970057
DOI: 10.1080/08998280.2021.1977076 -
Cancers Jul 2022Basal cell carcinoma (BCC), the most common cancer in humans, is a malignant neoplasm of cells derived from the basal layer of the epidermis. Tumor characteristics such... (Review)
Review
Basal cell carcinoma (BCC), the most common cancer in humans, is a malignant neoplasm of cells derived from the basal layer of the epidermis. Tumor characteristics such as histologic subtype, primary versus recurrent tumor, anatomic location, size, and patient attributes determine the risk level and acceptable treatment options. Surgical options offer histologic confirmation of tumor clearance. Standard excision provides post-treatment histologic assessment, while Mohs micrographic surgery (MMS) provides complete margin assessment intraoperatively. Additional treatment options may be employed in the correct clinical context. Small and low-risk BCCs, broad field cancerization, locally-advanced disease, metastatic disease, cosmetic concerns, or morbidity with surgical approaches raise consideration of other treatment modalities. We review herein a range of treatment approaches and advances in treatments for BCC, including standard excision, MMS, electrodesiccation and curettage, ablative laser treatment, radiation therapy, targeted molecular therapies, topical therapies, field therapies, immunotherapy, and experimental therapies.
PubMed: 35954384
DOI: 10.3390/cancers14153720