Management of Xeroderma Pigmentosum

Tamura, Deborah; Ono, Ryusuke; DiGiovanna, John J.; Kraemer, Kenneth H.

doi:10.1007/978-981-10-6722-8_14

Cited by 3 publications

(8 citation statements)

References 71 publications

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“…Management relies on early diagnosis, strict sunlight protection and rigorous monitoring of developing neoplastic lesions for early intervention. Genetic analysis is pivotal for pre-symptomatic diagnosis and prenatal counseling [ 11 , 12 ].…”

Section: Introductionmentioning

confidence: 99%

“…Mutational profiling improves disease and molecular characterization, and can explain similar clinical outcomes through investigating common ancestries [ 12 , 33 , 34 , 35 , 36 ]. In the current study, we describe clinical and genetic findings of 36 Egyptian XP patients (XP5GI to XP40GI) with and without neurological abnormalities.…”

Section: Introductionmentioning

confidence: 99%

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Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins

Rabie

Amr

Zada

et al. 2021

Genes

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Xeroderma pigmentosum is a rare autosomal recessive skin disorder characterized by freckle-like dry pigmented skin, photosensitivity, and photophobia. Skin and ocular symptoms are confined to sun exposed areas of the body. Patients have markedly increased risk for UV-induced skin, ocular, and oral cancers. Some patients develop neurodegenerative symptoms, including diminished tendon reflexes and microcephaly. In this study, we describe clinical and genetic findings of 36 XP patients from Egypt, a highly consanguineous population from North Africa. Thorough clinical evaluation followed by Sanger sequencing of XPA and XPC genes were done. Six novel and seven previously reported mutations were identified. Phenotype-genotype correlation was investigated. We report clinical and molecular findings consistent with previous reports of countries sharing common population structure, and geographical and historical backgrounds with implications on common ancestral origins and historical migration flows. Clinical and genetic profiling improves diagnosis, management, counselling, and implementation of future targeted therapies.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins

Rabie

Amr

Zada

et al. 2021

Genes

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show abstract

Section: Introductionmentioning

confidence: 99%

“…Based on retrospective studies, the estimated incidence in the US and Western Europe is approximately one per million live births 2 . Other studies have shown incidences as high as 15 to 20 per million in Libya and 10 to 50 per million in Japan 2,3 . The incidence in Northern African and Western Asian countries such as Libya, Tunisia, Morocco, and Pakistan may be higher because of the frequency of consanguineous marriages 3–6 .…”

Section: Introductionmentioning

confidence: 99%

Xeroderma Pigmentosum Associated with Squamous and Basal Cell Carcinoma in Pakistan: A Case Series

Khan¹,

Akbar

Saeed³

et al. 2021

Adv Skin Wound Care

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Xeroderma pigmentosum (XP) is an autosomal recessive condition characterized by an extreme sensitivity to UV rays from sunlight. It presents clinically with progressive pigmentary abnormalities and an increased incidence of skin and mucous membrane cancers at sun-exposed sites. Parental consanguinity is a significant risk factor. Previously, cases of XP have been reported from various regions of Pakistan including Larkana, Sibbi, Karachi, Lahore, and District Dir in 1993, 2009, and 2010. Genetic studies have been conducted on seven consanguineous families with XP belonging to the Khosa tribe of Baloch ethnicity. In May 2018, XP was reported in four siblings in a family from a small village in Sindh Province, Pakistan. Current surveillance has been carried out in the tribal village of Lundi Khosa, District Kachhi at Baluchistan, Pakistan. The disease has been endemic in the tribe since 1986, although it was brought under control in the last few years. This case report describes five patients (aged 3–12 years) with XP who have developed nonmelanoma skin malignancies.

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“…Traditional management for the prevention of skin cancer includes rigorous sun protection, topical field treatment with 5‐fluorouracil or imiquimod or oral retinoids. Cancer treatment approaches include cryotherapy, surgical excision and Mohs surgery . X‐radiation may be used for unresectable lesions.…”

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confidence: 99%

Pembrolizumab treatment of a patient with xeroderma pigmentosum with disseminated melanoma and multiple nonmelanoma skin cancers

2018

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Management of Xeroderma Pigmentosum

Cited by 3 publications

References 71 publications

Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins

Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins

Xeroderma Pigmentosum Associated with Squamous and Basal Cell Carcinoma in Pakistan: A Case Series

Pembrolizumab treatment of a patient with xeroderma pigmentosum with disseminated melanoma and multiple nonmelanoma skin cancers

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