Xeroderma pigmentosum: a Turkish case series

Gül, Ülker; Kılıç, Arzu; Gönül, Müzeyyen; Çakmak, Seray Külcü; Soylu, Seçil

doi:10.1111/j.1365-4632.2007.03254.x

Cited by 12 publications

(11 citation statements)

References 15 publications

(46 reference statements)

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“… 1‐18 BCC was nearly six times more common than SCC (n = 13 in six patients) in our cohort. 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 .…”

Section: Discussionmentioning

confidence: 70%

“…Xeroderma pigmentosum (XP) is a rare genodermatosis presenting with mucocutaneous, ocular, and neurological abnormalities and a high incidence of cutaneous malignancies 1‐3 . Although there are a few number of reports describing benign skin tumors in the setting of XP, 1,2,4‐6 in most series no association has been emphasized 3,7‐18 . The aim of this study is to evaluate 24 XP patients with respect to the development of benign skin tumors, precancerous lesions, and malignant skin tumors with their distinct clinical and histopathological features during a long follow‐up period.…”

Section: Introductionmentioning

confidence: 99%

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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: Discussionmentioning

confidence: 70%

Section: Introductionmentioning

confidence: 99%

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

et al. 2021

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“…Xeroderma pigmentosum is a well known risk factor for skin cancers. [1][2] The basic defect underlying the clinical findings is a nucleotide excision repair defect leading to a defective repair of DNA damaged by ultraviolet radiation. In children with XP, there is a 10000-fold increased risk of skin cancer under 20 years of age.…”

Section: Discussionmentioning

confidence: 99%

“…Due to defects in deoxyribonucleic acid (DNA) repair, photosensitivity, freckly pigmented changes and telengiectasis result. [1][2] The risk of skin cancer is higher than normal population. There is a 10000-fold increased risk of skin cancer on sun exposed sites.…”

mentioning

confidence: 99%

Squamous cell carcinoma associated with Xeroderma pigmentosum: an unusual presentation with a tremendously huge mass over the face and paraneoplastic hypercalcemia-hyperleukocytosis

Emir¹,

Hacısalihoğlu²,

Özyörük³

et al. 2017

Turk J Pediatr

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Emir S, Hacısalihoğlu Ş, Özyörük D, Kaçar D, Erdem A, Karakuş E. Squamous cell carcinoma associated with Xeroderma pigmentosum: an unusual presentation with a tremendously huge mass over the face and paraneoplastic hypercalcemia-hyperleukocytosis. Turk J Pediatr 2017; 59: 711-714. Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder that results from genetic defects in DNA repair and manifests with a marked hypersensivity to ultraviolet rays. Children with X-P are at high risk of developing skin cancers. On the other hand, hypercalcemia-hyperleukocytosis is a rare paraneoplastic syndrome in children with cancer compared to adults. Here, we report a five-year-old female with X-P and squamous cell carcinoma (SCC). The patient presented with a necrotic, ulcerating huge mass sized 20x15x10 cm involving the right half of the face. She had a history of increased freckling over the face since the age of two years. Her other cutaneous findings are dryness of skin, photosensitivity, freckling and telengiectasis all over the body. A diagnosis of Xeroderma pigmentosum was made based on clinical features. She also had high fever, anemia, hyperleukocytosis, thrombocytosis and hypercalcemia. After pathological diagnosis of squamous cell carcinoma, she was treated with chemotherapy. All the symptoms and signs resolved dramatically with the initiation of chemotherapy. Our case is an example of early development of massive disfiguring SCC in children with undiagnosed and untreated X-P. Although we could not prove the paraneoplastic nature of hypercalcemia-hyperleukocytosis, dramatic response to the chemotherapy may be an evidence for paraneoplastic origin.

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“…All 12 patients with cutaneous SCC developed their first lesion before the age of 6 years. In a Turkish case series of 12 XP patients followed for 5 years, 9 developed SCC with a mean age at first appearance of 12 years [11] .…”

Section: Discussionmentioning

confidence: 99%

Xeroderma Pigmentosum in an African-American

Orosco

Wang²,

Byrne³

2011

ORL

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Aims: To describe a case of xeroderma pigmentosum (XP) in a middle-aged African-American woman, and to review pertinent literature on this rare clinical scenario. Methods: Case report and English literature review related to XP in black patients. Results: A 34-year-old African-American woman diagnosed with XP with first cutaneous squamous cell carcinoma (SCC) at age 23 years progressed to develop additional SCC, basal cell carcinomas, and melanoma in situ. She was treated with sun avoidance and protection and required multiple excisions. Conclusions: We report a case of XP with a rare presentation in an African-American with onset of cutaneous neoplasm in her third decade. Severe photosensitivity and common malignancy seen in XP patients necessitate frequent surveillance with a low threshold for intervention. This case highlights the ability of XP to present in this demographic with a diverse spectrum of malignancies, and a potentially prolonged clinical course.

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Xeroderma pigmentosum: a Turkish case series

Abstract: This study presents the epidemiological and clinical features of Turkish XP patients. We believe this study will provide new data for further studies in the future.

Cited by 12 publications

References 15 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

Squamous cell carcinoma associated with Xeroderma pigmentosum: an unusual presentation with a tremendously huge mass over the face and paraneoplastic hypercalcemia-hyperleukocytosis

Xeroderma Pigmentosum in an African-American

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