First report of oral angiokeratoma in a xeroderma pigmentosum

Saleh, Wafaa; Elansary, Maha

doi:10.1016/j.ijscr.2021.106513

Cited by 3 publications

(3 citation statements)

References 10 publications

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“…46,47 Affected patients are at risk for skin and mucous membrane cancers in sun-exposed areas. 47,48 The most prevalent skin cancers are squamous cell carcinoma followed by basal cell carcinoma and malignant melanoma. [49][50][51][52][53] Patients with XP have a 10,000-fold and 2000-fold increased risk over their lives of developing non-melanoma skin cancers (notably squamous cell carcinoma and basal cell carcinoma) and malignant melanoma, respectively.…”

Section: Aetiopathogenesismentioning

confidence: 99%

Xeroderma pigmentosum: an updated review

Leung¹,

Barankin²,

Lam³

et al. 2022

DIC

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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.

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Section: Aetiopathogenesismentioning

confidence: 99%

Xeroderma pigmentosum: an updated review

Leung¹,

Barankin²,

Lam³

et al. 2022

DIC

View full text Add to dashboard Cite

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“…Squamous cell carcinoma of the tongue tip was reported by Wade and Plotnick in two patients with XP ( 111 ). Saleh and Elansary reported the presence of an oral angiokeratoma on the tongue of a 20 year-old male patient with XP ( 112 ).…”

Section: Xeroderma Pigmentosummentioning

confidence: 99%

Non-Melanoma Skin Cancers and Other Cutaneous Manifestations in Bone Marrow Failure Syndromes and Rare DNA Repair Disorders

et al. 2022

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Although most non-melanoma skin cancers are felt to be sporadic in origin, these tumors do play a role in several cancer predisposition syndromes. The manifestations of skin cancers in these hereditary populations can include diagnosis at extremely early ages and/or multiple primary cancers, as well as tumors at less common sites. Awareness of baseline skin cancer risks for these individuals is important, particularly in the setting of treatments that may compromise the immune system and further increase risk of cutaneous malignancies. Additionally, diagnosis of these disorders and management of non-cutaneous manifestations of these diseases have profound implications for both the patient and their family. This review highlights the current literature on the diagnosis, features, and non-melanoma skin cancer risks associated with lesser-known cancer predisposition syndromes, including bone marrow failure disorders, genomic instability disorders, and base excision repair disorders.

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“…A recent report describes a patient with xeroderma pigmentosum diagnosed with bilateral ocular surface squamous neoplasia who underwent successful tumor excision, corneal transplantation and mucous membrane grafting [39]. Finally, Saleh and Elansary describe a novel case of an oral angiokeratoma in a patient with xeroderma pigmentosum [40].…”

Section: Genodermatoses Updatesmentioning

confidence: 99%

Photodermatoses: what's new

Scollan

Lauren

2022

Current Opinion in Pediatrics

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Purpose of reviewThe purpose of this review is to summarize and highlight the recent literature in photodermatoses. In the past year, there have been many developments in this heterogeneous group of conditions. Recent findingsThis review is divided by photodermatoses type, which include idiopathic photodermatoses, photodermatoses secondary to exogenous agents, photodermatoses secondary to endogenous agents (the porphyrias), and genodermatoses. The idiopathic photodermatoses section focuses on case series and reports highlighting new disease presentations or further disease characterization and new treatment strategies for these disorders. The second section discusses a unique case and has a brief update on photoallergens. Clinical, diagnostic, and treatment updates for porphyrias are discussed in Section 3. For genodermatoses, we discuss complications and neoplastic risk of xeroderma pigmentosum and a few highlights from other rare disorders. Finally, we conclude with a brief overview of photoprotection updates, from assessing sun-damaged skin to the most effective photoprotective agents.

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First report of oral angiokeratoma in a xeroderma pigmentosum

Cited by 3 publications

References 10 publications

Xeroderma pigmentosum: an updated review

Xeroderma pigmentosum: an updated review

Non-Melanoma Skin Cancers and Other Cutaneous Manifestations in Bone Marrow Failure Syndromes and Rare DNA Repair Disorders

Photodermatoses: what's new

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