Xeroderma pigmentosum. Complementation group C and malignant melanoma

Lynch, Henry T.

doi:10.1001/archderm.120.2.175

Cited by 11 publications

(5 citation statements)

References 18 publications

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“…We have observed in some cases spontaneous regression of the primitive skin tumour. In the literature, only two patients with XP have been reported with spontaneous regression of metastatic MM …”

Section: Systemic Disorders and Cause Of Death In Patients With Xerodmentioning

confidence: 99%

Clinical, genealogical and molecular investigation of the xeroderma pigmentosum type C complementation group in Tunisia

et al. 2015

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Section: Systemic Disorders and Cause Of Death In Patients With Xerodmentioning

confidence: 99%

Clinical, genealogical and molecular investigation of the xeroderma pigmentosum type C complementation group in Tunisia

et al. 2015

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“…Conversely, lesions at Central Nervous System (CNS) and eyes or invasive skin cancers occur only in particular groups, showing a severe gravity score [11]. + [14] + [13] + [11] + [15] + [14] XP-B M + [16] + [16] + [16] + [11,16,17] + [6,18,19] + [19] XP-C M/S + [20] + [20,21] + [20,21] + [11,20,22,23] − [6,9,20,24] + [20] XP-D M + [25] + [26] + [25] + [11] + [6,18,27] + [6] XP…”

Section: Clinical Features Of Xeroderma Pigmentosummentioning

confidence: 99%

Xeroderma Pigmentosum: General Aspects and Management

Piccione

Fortina

Ferri³

et al. 2021

JPM

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Xeroderma Pigmentosum (XP) is a rare genetic syndrome with a defective DNA nucleotide excision repair. It is characterized by (i) an extreme sensitivity to ultraviolet (UV)-induced damages in the skin and eyes; (ii) high risk to develop multiple skin tumours; and (iii) neurologic alterations in the most severe form. To date, the management of XP patients consists of (i) early diagnosis; (ii) a long-life protection from ultraviolet radiation, including avoidance of unnecessary UV exposure, wearing UV blocking clothing, and use of topical sunscreens; and (iii) surgical resections of skin cancers. No curative treatment is available at present. Thus, in the last decade, in order to prevent or delay the progression of the clinical signs of XP, numerous strategies have been proposed and tested, in some cases, with adverse effects. The present review provides an overview of the molecular mechanisms featuring the development of XP and highlights both advantages and disadvantages of the clinical approaches developed throughout the years. The intention of the authors is to sensitize scientists to the crucial aspects of the pathology that could be differently targeted. In this context, the exploration of the process underlining the conception of liposomal nanocarriers is reported to focus the attention on the potentialities of liposomal technology to optimize the administration of chemoprotective agents in XP patients.

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“…XP is a genetically heterogeneous disorder, with eight different complementation groups (XP-A to G, and XP variant). Individuals with pathogenic variants in XPC have a distinct milder phenotype on the basis of cellular sensitivity assays and lack of neurological abnormalities, but they are particularly prone to malignant melanoma (Lynch 1984;Li et al 1993;Fassihi et al 2016). The proband is heterozygous for an ∼1.04-kb deletion within XPC ( Table 2).…”

Section: Variant Interpretationmentioning

confidence: 99%

A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C

Macke

Morales‐Rosado

Gupta

et al. 2020

Cold Spring Harb Mol Case Stud

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Pathogenic variants in the XPC complex subunit, DNA damage recognition, and repair factor (XPC) are the cause of xeroderma pigmentosum, group C (MIM: 278720). Xeroderma pigmentosum is an inherited condition characterized by hypersensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer due to a defect in nucleotide excision repair (NER). Here we describe an individual with a novel missense variant and deletion of exons 14-15 in XPC presenting with a history of recurrent melanomas. The proband is a 39-yr-old female evaluated through the Mayo Clinic Department of Clinical Genomics. Prior to age 36, she had more than 60 skin biopsies that showed dysplastic nevi, many of which had atypia. At age 36 she presented with her first melanoma in situ, and since then has had more than 10 melanomas. The proband underwent research whole-exome sequencing (WES) through the Mayo Clinic's Center for Individualized Medicine and a novel heterozygous variant of uncertain significance (VUS) in XPC (c.1709T > G, p.Val570Gly) was identified. Clinical confirmation pursued via XPC gene sequencing and deletion/duplication analysis of XPC revealed a pathogenic heterozygous deletion of ∼1 kb within XPC, including exons 14 and 15. Research studies determined the alterations to be in trans. Although variants in XPC generally result in early-onset skin cancer in childhood, the proband is atypical in that she did not present with her first melanoma until age 36. Review of the patient's clinical, pathological, and genetic findings points to a diagnosis of delayed presentation of xeroderma pigmentosum.

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Xeroderma pigmentosum. Complementation group C and malignant melanoma

Cited by 11 publications

References 18 publications

Clinical, genealogical and molecular investigation of the xeroderma pigmentosum type C complementation group in Tunisia

Clinical, genealogical and molecular investigation of the xeroderma pigmentosum type C complementation group in Tunisia

Xeroderma Pigmentosum: General Aspects and Management

A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C

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