Xeroderma pigmentosum: early diagnostic features and an adverse consequence of photoprotection

Ali, J. T.; Mukasa, Yosuke; Coulson, I.H.

doi:10.1111/j.1365-2230.2008.02865.x

Cited by 8 publications

(3 citation statements)

References 4 publications

(10 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…123 As UVR, in particular UV-B radiation, is needed for the production of vitamin D in the skin from 7-dehydrocholesterol, individuals under strict sun protection may have vitamin D deficiency. 124,125 Affected patients should be encouraged to consume foods (e.g. eggs, fish and fortified foods) rich in vitamin D. 11 Vitamin D supplementation is recommended for individuals with low serum concentration of vitamin D. 22,133,134 Cutaneous malignancy can be treated by photodynamic therapy, curettage with electrodessication, aggressive cryosurgery or surgical excision depending on the type of skin cancer; the latter is the treatment of choice.…”

Section: Sun Avoidance and Sun Protectionmentioning

confidence: 99%

Xeroderma pigmentosum: an updated review

Leung¹,

Barankin²,

Lam³

et al. 2022

DIC

View full text Add to dashboard Cite

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 2 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.

show abstract

Section: Sun Avoidance and Sun Protectionmentioning

confidence: 99%

Xeroderma pigmentosum: an updated review

Leung¹,

Barankin²,

Lam³

et al. 2022

DIC

View full text Add to dashboard Cite

show abstract

“…Xeroderma pigmentosum (XP) is an autosomal recessive photosensitive disease related to defective DNA repair. 62 The most important aspect of clinical management is rigorous photoprotection from ultraviolet radiation.…”

Section: Xeroderma Pigmentosummentioning

confidence: 99%

Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention

Litaiem

Chabchoub

Bacha

et al. 2020

Photoderm Photoimm Photomed

View full text Add to dashboard Cite

Background Rickets is a common disease worldwide. In the developed world, its prevalence dramatically decreased but still diagnosed in at‐risk populations. The skin plays a critical role in vitamin D synthesis. Therefore, several skin diseases, especially keratinization disorders, could lead to impaired vitamin D metabolism and vitamin D deficient rickets. Objective The article aimed to summarize the current knowledge of skin diseases and conditions associated with rickets. Methods To examine the association between rickets and skin diseases, we performed a systematic review of the literature using PubMed database. The search included studies published from the database inception to August 2019. Results A total number of 75 articles were included. Identified conditions associated with rickets were ichthyosis being a more common skin diseases, alopecia, epidermal and melanocytic nevi, xeroderma pigmentosum, mastocytosis, psoriasis, and atopic dermatitis. Three types of rickets were identified: vitamin D‐dependent rickets, hypocalcemic vitamin D‐dependent rickets type 2, and hypophosphatemic rickets. Cutaneous skeletal hypophosphatemia syndrome is a newly described and under‐recognized condition. It is defined by the association of epidermal or melanocytic nevi, hypophosphatemic rickets, and elevated levels of fibroblast growth factor 23. Rickets in patients with ichthyosis was mainly due to impaired ability of ichthyotic skin to synthesize vitamin D, poor UV penetration of the skin caused by keratinocyte proliferation, and dark phototype. The latter may be considered a risk factor for rickets in patients with ichthyosis. Conclusion Despite its rarity, these associations should be properly recognized by dermatologists. Early diagnosis of rickets is important to prevent growth retardation and skeletal deformities.

show abstract

“…Avoiding sun exposure for long duration may alter the calcium ion concentration and affect bone growth and development in infants and young children. Dietary supplementation with vitamin D, vitamin A and nicotinamide or zinc sulfate may minimize these side effects [39]. Prophylactic treatment with anticancer drugs, including isotretinoin or fluorouracil can reduce the incidence of skin cancer in XP [40].…”

Section: Treatmentmentioning

confidence: 99%

Xeroderma Pigmentosum-A Rare Genodermatosis: Overview of Literature

Hasan¹,

Saeed²

2015

Pigmentary Disorders

View full text Add to dashboard Cite

Xeroderma pigmentosum is a rare genodermatosis, autosomal recessive in nature in which excessive ultraviolet radiation causes skin, ocular, neurological, and oral lesions along with development of cutaneous and internal malignancies at an early age. There is no definitive cure for the disease. Avoidance of ultraviolet radiation, use of protective clothing, sunscreens, oral retinoids, 5-fluorouracil and regular consultations with dermatologists, ophthalmologists, neurologists and dentists forms an important part of the treatment protocol. This paper aims to throw light on the etiopathogenesis, clinical features and treatment modalities of this life threatening disease. There is also a special mention on the oral manifestations and dental health considerations of the rare disorder.

show abstract

Xeroderma pigmentosum: early diagnostic features and an adverse consequence of photoprotection

Cited by 8 publications

References 4 publications

Xeroderma pigmentosum: an updated review

Xeroderma pigmentosum: an updated review

Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention

Xeroderma Pigmentosum-A Rare Genodermatosis: Overview of Literature

Contact Info

Product

Resources

About