Severe Facial-Disfiguring Xeroderma Pigmentosum With Rapidly Progressing Malignant Tumors

Zan, Tao; Huang, Xin; Li, Qingfeng

doi:10.1001/jamaoto.2018.3218

Cited by 3 publications

(8 citation statements)

References 12 publications

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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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Section: Complicationsmentioning

confidence: 99%

Xeroderma pigmentosum: an updated review

Leung¹,

Barankin²,

Lam³

et al. 2022

DIC

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“…The transformative impact of this innovative approach on patients' lives is underscored by the study findings. 1 With a mean follow-up of more than 5 years, all 24 patients reported improved quality of life and self-reported health status, and nearly all returned to work with improved social and emotional stability. Patients experienced significant improvements in both functional and aesthetic status.…”

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confidence: 92%

“…This is particularly true regarding total facial defects. In their recent study, Zan et al present a novel method for total facial reconstruction using entirely autologous tissue transplantation, showcasing novel advancements in the surgical discipline. The authors, over a 17-year period, developed and refined a standardized approach to total facial reconstruction incorporating flap prefabrication, 3-dimensional (3D) printing, skin and soft-tissue expansion, and indocyanine green angiography (IGA) using a monoblock autologous flap.…”

mentioning

confidence: 99%

“…What is more, regional tissue expansion still leaves the transferred flap with incision lines that cross facial subunits. The authors used a clever staged approach: regional skin is expanded in conjunction with a buried fascia free flap to not only improve vascularity but also to enable a pedicled flap to reach the face from the chest. In addition, the inclusion of 2 additional vascular pedicles for supercharging the flap along with IGA allows for real-time flap monitoring, allowing for safe creation of openings for the eyes, nose, and mouth during the transfer phase.…”

mentioning

confidence: 99%

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Advancing Autologous Tissue Transplant—Innovating Total Facial Reconstruction

Genther,

Byrne

2024

JAMA Otolaryngol Head Neck Surg

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“…In the article titled “Severe Facial-Disfiguring Xeroderma Pigmentosum With Rapidly Progressing Malignant Tumors,” published in the February 2019 issue of JAMA Otolaryngology–Head & Neck Surgery , indication of co–first authorship was missing. Authors Tao Zan, MD, PhD, and Xin Huang, MD, are co–first authors of this article.…”

mentioning

confidence: 99%

Missing Co–First Authorship Notice

2020

JAMA Otolaryngol Head Neck Surg

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be underreported because complications pertaining to hypoparathyroidism may not be evident until after discharge and many surgeons routinely send patients home on prophylactic over-the-counter calcium supplementation without obtaining postoperative calcium levels. 5 This is unfortunately a systemic issue owing to the lack of consensus on postoperative calcium monitoring.Liang and Chen question the use of the Romano adaptation of the Charlson Comorbidity Index (CCI) to characterize our study population and to control for preexisting health conditions in our analysis over a qualitative comorbidity count. This qualitative comorbidity score includes diabetes and underlying kidney disease among other conditions. The Romano adaptation of CCI is weighted to reflect the degree of severity and is a well-established method for calculating comorbidity in administrative data sets. 6 We realize that this study is limited in our inability to control for case mix and that poor outcomes may reflect lower quality of care or unobserved disease severity. However, this limitation should not decrease our study's internal validity because we do not claim a causal relationship between any of the factors we have identified and the development of hypocalcemia, but rather point out significant associations that warrant further examination in more controlled study designs.We agree with Liang and Chen that there is a need for standardization in the identification of postsurgical hypocalcemia and the importance of continued research characterizing the relationship between magnesium and calcium in the postthyroidectomy population. In addition, we hope that this study paves the way for further exploration into the potential of perioperative magnesium correction and supplementation in mitigating the incidence of postoperative hypocalcemia.

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Severe Facial-Disfiguring Xeroderma Pigmentosum With Rapidly Progressing Malignant Tumors

Cited by 3 publications

References 12 publications

Xeroderma pigmentosum: an updated review

Xeroderma pigmentosum: an updated review

Advancing Autologous Tissue Transplant—Innovating Total Facial Reconstruction

Missing Co–First Authorship Notice

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