Physical, oral, and swallowing functions of three patients with type a xeroderma pigmentosum: a report of three cases.

BACKGROUND: Xeroderma pigmentosum (XP) is an extremely rare and severe form of photosensitivity. It is classified into types A-G or V according to the gene responsible for the disease. The progression and severity of symptoms vary depending on the type. Although dysphagia caused by decreased swallowing function and dental malposition due to stenosis of the dentition in the facial and oral regions is common, it has not been reported in detail. We report three cases of type A XP, in which central and peripheral neurological symptoms appeared early on and progressed rapidly. We describe the oral function of these patients, focusing on the swallowing function and dentition malposition. CASE PRESENTATION: Two males (27 and 25 years old) and one female (28 years old) presented with diverse neurological symptoms. We focused on the relationship between the changes in swallowing and oral functions and conditions due to decline in physical function. Some effects were observed by addressing the decline in swallowing and oral functions. In particular, a dental approach to manage the narrowing of the dentition, which was observed in all three patients, improved the swallowing and oral functions and maintained the current status of these functions. CONCLUSIONS: In type A XP, early decline in oral and swallowing functions is caused by the early decline in physical function, and it is necessary to monitor the condition at an early stage.

Marginal Mandibulectomy and Oral Rehabilitation of Xeroderma Pigmentosum Patient.

Xeroderma pigmentosum (XP) may cause tissue deformation in patients who have undergone oral cancer surgery requiring resection of any part of the mandible. Oral rehabilitation is a pivotal factor in the restoration of function and esthetics. The aim of this study was to report a clinical case of successful prosthetic rehabilitation of a 57-year-old woman who presented with marginal mandibulectomy and a significant reduction in maximal mouth opening after treatment for XP. With her reduced opening and considerable loss of structure and tissue, she had difficulty speaking, swallowing, and altered esthetics. The oral rehabilitation was performed with complete maxilla denture and mandible overdenture retained by 2 implants. This case demonstrates that the rehabilitation with mandible overdentures and complete maxilla dentures provide function and esthetic improvement in the mutilated area for XP patients with marginal mandibulectomies.

The therapeutic dental challenge of xeroderma pigmentosum patients: case report.

Xeroderma pigmentosum (XP) is a rare genetic disease characterized by a hypersensitivity to ultraviolet (UV) radiation leading to defective deoxyribonucleic acid (DNA) repair and predisposing to skin tumorigenesis. This paper reports the safe approaches used for the dental treatment of XP patients, controlling the ultraviolet (UV) sources at the dental office. An XP 29-year-old woman was referred for oral pain and sensitivity at the service of periodontology, UV rays were checked with a UV-meter. During the examination, the patient kept her sunglasses while the practitioner was dressed in dark colors using an anti-UV filter over the surgical light. Facial dark brown pigmentations, limited mouth opening, tumor resection scar on the tongue, moderate periodontitis, and dental caries were noticed. Moderate periodontitis and dental caries were diagnosed. Treatment was planned in collaboration with the dermatologist. Soft scaling and root planning were performed in short sessions and self-curing material was used for coronary fillings after caries removal. In taking care of XP patients, particular attention should be given by dental professionals to: i) the office management for a UV-safe environment; ii) the adoption of suitable dental care and safe biomaterials with short sessions and regular controls; and iii) the adoption of personal protections by patients and practitioners.

Effect of Pegylated Interferon and Mitomycin C on Ocular Surface Squamous Neoplasia in Xeroderma Pigmentosum: A Case Series.

BACKGROUND Xeroderma pigmentosum (XP) is an autosomal recessive disease caused by mutations in DNA repair genes. Clinical manifestations include extreme sensitivity to ultraviolet (UV) rays, freckle-like pigmentation, ocular abnormalities, and an increased risk of developing neoplasms in sun-exposed areas of the skin, mucous membranes, and eyes. This paper describes the clinical outcome of pegylated interferon alpha 2b (PEG-IFN-alpha-2b) subconjunctival injections and topical mitomycin C (MMC) in the treatment of ocular surface squamous neoplasia (OSSN) in patients with XP. CASE REPORT A series of 3 patients with histopathologically-proven biopsy specimens of XP-associated neoplasia of the eyelids and ocular surface underwent subconjunctival injections of PEG-IFN-alpha-2 band topical cycles of MMC. There was a noticeable decrease in the size and severity of ocular surface squamous neoplasia, with minimal adverse effects of flu-like symptoms with mild fever and generalized malaise. Transient mental depression was reported in 2 of our patients, and only 1 patient developed autoimmune diabetes mellitus, which required insulin therapy after the discontinuation of the PEG-IFN-alpha-2b. CONCLUSIONS The literature on the specifics of ocular care using PEG-IFN-alpha-2b for XP-associated OSSN is sparse. However, according to our clinical experience, the combination of PEG-IFN-alpha-2b subconjunctival injection and the topical cycles of MMC is a promising long-term medical therapy to minimize the development and recurrence of OSSN in XP patients.

Detailed Audiological Evaluation of a Patient with Xeroderma Pigmentosum with Neural Degeneration.

BACKGROUND: Xeroderma pigmentosum (XP) is a rare autosomal recessive condition characterized by extreme sensitivity to ultraviolet light. Individuals with XP lack the ability to repair DNA (deoxyribonucleic acid) damage caused by ultraviolet radiation, leading to sunburn and increased susceptibility to skin cancers. Approximately 25% of patients also exhibit neural degeneration, which includes progressive mental deterioration, cortical thinning, and sensorineural hearing loss. PURPOSE: Herein, we describe the audiological and genetic findings in a patient with XP subtype D with neural degeneration and hearing loss. RESEARCH DESIGN: This is a case report of a patient with XP subtype D, type 1 diabetes, and some clinical features typical of Charcot-Marie-Tooth disease. DATA COLLECTION AND ANALYSIS: We obtained audiological evaluations over a course of 11 yr, including serial audiograms, auditory processing disorders evaluations, and electrophysiological testing. RESULTS: Hearing sensitivity has progressed from a unilateral mild high-frequency sensorineural hearing loss to a bilateral sloping moderate to severe/profound sensorineural hearing loss. In addition to the dramatic decline in hearing sensitivity, the patient demonstrates global auditory processing deficits, indicating a central component to his hearing loss. CONCLUSION: These findings emphasize the importance of the contribution of audiological evaluations to the diagnosis of a genetic disorder. Periodic evaluations of hearing sensitivity and auditory processing can provide information on disease progression in patients with XP with neural degeneration.

Ocular manifestations of genetic skin disorders.

Genetic skin diseases, or genodermatoses, often have extracutaneous manifestations. Ocular manifestations in particular can have significant clinical implications, like blindness. Other manifestations, such as the corneal opacities that occur in X-linked ichthyosis, are asymptomatic but characteristic of a particular genodermatosis. Ophthalmologic examination can aid in diagnosis when characteristic findings are seen. The genodermatoses with ocular manifestations will be reviewed, but neurocutaneous, syndromes, genetic pigmentary disorders, and genetic metabolic diseases are not included because they are covered elsewhere in this issue.

Xeroderma pigmentosum: a case report.

This paper presents a case study of a child with xeroderma pigmentosum (XP). The disease results in sensitivity to UV radiation as a result of reduced activity in a defective enzyme responsible for DNA repair. Affected individuals have a variety of clinical symptoms, which may include problems of the skin and oral mucosa, ocular manifestations, and neurologic impairment. A number of precautions must be taken when treating these patients, which include proper shielding from damaging light and the selection of suitable dental materials. The necessary measures required when treating patients with XP are reviewed in this report.

Management of a xeroderma pigmentosum case with oral findings in a dental setup.

Xeroderma pigmentosum (XP) is heterogeneous group of disorder transmitted as autosomal recessive trait. It is characterised by photosensitivity, freckled pigmentation and premature skin ageing and malignant tumour development. The manifestations are due to a cellular hypersensitivity to ultraviolet light resulting from a defect in DNA repair. Multiple cutaneous neoplasms develop at a young age in persons with XP. Two important causes of mortality are metastatic malignant melanoma and squamous cell carcinoma (SCC). We report a case of XP in a 22 year-old male patient who developed SCC of lower lip with in a short period of 1 month.

T4 endonuclease V: review and application to dermatology.

BACKGROUND: T4 endonuclease V was originally isolated from Escherichia coli infected with T4 bacteriophage. It has been shown to repair ultraviolet (UV)-induced cyclobutane pyrimidine dimers in DNA, which, when unrepaired, contribute to mutations that result in actinic keratoses and non-melanoma skin cancers (NMSC). This is a particular concern in patients with genetic defects in their DNA repair systems, especially those with xeroderma pigmentosum (XP). When packaged in liposomes and applied topically, T4 endonuclease V can traverse the stratum corneum and become incorporated within the cytoplasm and nucleus of epidermal keratinocytes and Langerhans cells. OBJECTIVE: To review all major studies evaluating the efficacy of T4 endonuclease V in animals and humans, the toxicity and safety profile of the topical medication and its potential clinical uses. METHODS: A literature search was performed through PubMed/Medline, using the keywords 'T4N5', 'T4 endonuclease V' and 'dimericine'. Papers found in the bibliographies of those identified in the initial search and deemed relevant were also included. CONCLUSION: This enzyme increases the repair of UV-damaged DNA and produces other beneficial effects on UV-damaged cells. In clinical trials in XP patients, topical application of liposome-encapsulated T4 endonuclease V reduced the incidence of basal cell carcinomas by 30% and of actinic keratoses by > 68%. Adverse effects were minimal, and there was no evidence of allergic or irritant contact dermatitis. Although the photoprotective effect of T4N5 has been investigated only in XP patients, the possibility exists that it may benefit others likely to develop premalignant keratoses and NMSC, such as organ transplant recipients receiving immunosuppressive therapy and individuals who have had numerous psoralen plus UVA photochemotherapy treatments. It may be also be effective for normal individuals.

Combined hereditary factor XI (plasma thromboplastin antecedent) deficiency, von Willebrand's disease, and xeroderma pigmentosum in a Japanese family.

We report a 28-year-old-Japanese male who had a skin tumor derived from variant type xeroderma pigmentosum (XP), combined with factor XI (FXI) deficiency and type IIB von Willebrand's disease (vWd). The patient had abnormal bleeding history on tooth extraction. FXI clotting activity (FXI:C) and antigen (FXI:Ag) were remarkably decreased (< 0.01 U/ml, < 0.02 U/ml, respectively). Factor VIII (FVIII) clotting activity, von Willebrand factor antigen (vWf:Ag), and ristocetin cofactor (RCoF) were 0.43 U/ml, 45%, and 57%, respectively. Ristocetin-induced platelet agglutination (RIPA) revealed hyper-aggregation compared with a normal control. Multimeric composition of vWf in plasma showed a reduction in high molecular weight forms. The family study revealed two other subjects with homozygous hereditary FXI deficiency and vWd, and five subjects with heterozygous FXI deficiency. The relationship between FXI deficiency and vWd is discussed and previously reported cases are reviewed.