Xeroderma Pigmentosum - a disfiguring disease: Single patient with 5 simultaneous tumors on face

Shams, Muhammad Usman; Lail, Raees Abbas; Ullah, Ehsan; Nagi, A. H.

doi:10.5001/omj.2014.64

Cited by 5 publications

(6 citation statements)

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“…Although BCC was found more common in some previous reports 4‐7,9,16 similar to our series, in a review article comprising 830 published XP cases from 1874 to 1982 19 and in several other studies, the most common malignant skin tumor was reported to be SCC 1‐3,10‐14 . Basosquamous carcinoma, a rare skin carcinoma, was occasionally reported in the setting of XP 20,21 . Similar to our patient group (four tumors in three patients), it was also observed in Khatri et al's series in two patients 1 …”

Section: Discussionsupporting

confidence: 89%

Skin tumors in xeroderma pigmentosum: Evaluation of a large series and a literature review

et al. 2021

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Background Xeroderma pigmentosum (XP) is a rare genodermatosis with a lifelong propensity to develop malignant skin tumors. Methods In this retrospective study, 24 XP patients were evaluated with regard to frequency and clinicopathological features of benign and malignant skin tumors. Results Seventeen patients had at least one malignant skin tumor diagnosed: basal cell carcinoma (BCC) in 13 patients (n = 72), basosquamous carcinoma in three patients (n = 4), squamous cell carcinoma in six patients (n = 13), keratoacanthoma in three patients (n = 15), and melanoma in six patients (n = 18). Most melanomas (n = 15) were in situ lesions. Several benign skin tumors were noted such as tricholemmoma (n = 1), trichoepithelioma (n = 1), trichoblastoma (n = 1), follicular infundibulum tumor (n = 1), keratoacanthoma‐like follicular lesion (n = 1), adnexal tumors with folliculosebaceous (n = 1) and tricholemmal differentiation (n = 1), and neurofibroma (n = 1). Benign vascular proliferations including pyogenic granulomas (n = 8), widespread telangiectasias, and senile angioma‐like lesions were also observed in 3, 5, and 5 patients, respectively. Conclusions Similar to many reports, BCC was found to be the most common malignant skin tumor. The high prevalence of benign adnexal tumors of follicular differentiation, some of them showing mixed histopathological features and various vascular proliferations in our series raises the question of whether they indicate a formerly undescribed association with XP.

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Section: Discussionsupporting

confidence: 89%

Skin tumors in xeroderma pigmentosum: Evaluation of a large series and a literature review

et al. 2021

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“…Our search revealed seven mucosal BCCs in patients with XP, all on the lips. Location was specified as upper lip in three lesions 30,55,56 and lower lip in two lesions 57,58 . Three of the patients with oral mucosal BCCs also had multiple facial BCCs 56–58 .…”

Section: Resultsmentioning

confidence: 99%

“…Location was specified as upper lip in three lesions 30,55,56 and lower lip in two lesions. 57,58 Three of the patients with oral mucosal BCCs also had multiple facial BCCs. [56][57][58] An example is a 9-year-old boy with lower lip BCC, who had an additional 11 BCCs on the face and one BCC of the inner canthus invading the orbit, the only reported invasive BCC.…”

Section: Scc Of Eye (5)mentioning

confidence: 99%

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Oral mucosa involvement in pediatric patients with xeroderma pigmentosum: a comprehensive review

Baskurt,

Vural,

Ertekin

et al. 2023

Int J Dermatology

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BackgroundXeroderma pigmentosum (XP) is a rare autosomal recessive disorder presenting with an inability to repair UV‐induced DNA damage. This can lead to the development of neoplasms affecting multiple organ systems, with onset often in childhood. Unfortunately, no cure currently exists for XP, and management strategies focus on sun protection and early intervention for malignancies. Although most skin problems in XP patients are UV induced, various oral lesions are also described. However, the literature has not extensively characterized the oral manifestations and their prognostic significance.MethodsWe conducted a comprehensive review to evaluate the prevalence and nature of oral mucosal lesions in pediatric XP patients.ResultsOur literature search yielded 130 pediatric XP patients with oral involvement and 210 associated tumoral or non‐tumoral lesions. Squamous cell carcinoma was the most common type of oral mucosal tumor reported, with other malignancies including basal cell carcinoma, melanoma, angiosarcoma, fibrosarcoma, and trichilemmal carcinoma.ConclusionGiven the potential morbidity and mortality associated with oral mucosal tumors in XP patients, our study aims to raise awareness of these manifestations. Early diagnosis and treatment are crucial for managing these lesions effectively, and routine oral exams should be considered a critical component of dermatological evaluations for XP patients, especially in the pediatric age group.

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“…Dry parchment-like prematurely aged skin, poikiloderma (constellation of hyperpigmentation, hypopigmentation, atrophy, telangiectasia and keratotic skin lesions) and cutaneous premalignant and malignant lesions in visible areas have been reported by patients as disfiguring and embarrassing. 97,98 Affected children are more likely to experience loneliness, sadness, discrimination, shame, ridicule, harassment, teasing, bullying, rejection and abuse. 99 The psychological impact can be profound especially those individuals with malignancy and has an adverse effect on the quality of life.…”

Section: Complicationsmentioning

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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Xeroderma Pigmentosum - a disfiguring disease: Single patient with 5 simultaneous tumors on face

Cited by 5 publications

References 10 publications

Skin tumors in xeroderma pigmentosum: Evaluation of a large series and a literature review

Skin tumors in xeroderma pigmentosum: Evaluation of a large series and a literature review

Oral mucosa involvement in pediatric patients with xeroderma pigmentosum: a comprehensive review

Xeroderma pigmentosum: an updated review

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