Technical Aspects and Difficulties in the Management of Head and Neck Cutaneous Malignancies in Xeroderma Pigmentosum

Abstract

BackgroundXeroderma pigmentosum (XP) is an autosomal recessive disorder characterized by xerosis, ultraviolet light sensitivity, and cutaneous dyspigmentation. Due to defects in their DNA repair mechanism, genetic mutations and carcinogenesis inevitably occurs in almost all patients. In these patients, reconstruction of cutaneous malignancies in the head and neck area is associated with some challenges such as likelihood of recurrence and an aggressive clinical course. The aim of this study is to discuss the therapeutic options and challenges commonly seen during the course of treatment.MethodsBetween 2005 and 2015, 11 XP patients with head and neck cutaneous malignancies were included in this study. Demographic data and treatment options of the patients were evaluated.ResultsThe mean age of the patients was 32 years (range, 10–43) (4 males, 7 females). The most common tumor type and location were squamous cell carcinoma (6 patients) and the orbital region (4 patients), respectively. Free tissue transfer was the most commonly performed surgical intervention (4 patients). The average number of surgical procedures was 5.5 (range, 1–25). Six patients were siblings with each other, 5 patients had local recurrences, and one patient was lost to follow-up.ConclusionsAlthough genetic components of the disease have been elucidated, there is no definitive treatment algorithm. Early surgical intervention and close follow-up are the gold standard modalities due to the tendency toward rapid tumor growth and possible recurrence. Treatment must be individualized for each patient. In addition, the psychological aspect of the disease is an important issue for both patients and families.

Severe Facial-Disfiguring Xeroderma Pigmentosum With Rapidly Progressing Malignant Tumors

“…2 Excisional surgery should be considered once an invasive tumor is detected, and aesthetic reconstruction with tissues from UV-protected body sites are thought to be rewarding. 6 If regional lymph nodes are invaded, radical lymphadenectomy should be considered when feasible and well tolerated by the patient. 6 Postoperative adjuvant therapy is recommended while the detailed therapeutic plan is largely empirical.…”

“…6 If regional lymph nodes are invaded, radical lymphadenectomy should be considered when feasible and well tolerated by the patient. 6 Postoperative adjuvant therapy is recommended while the detailed therapeutic plan is largely empirical. Complete physical and radiographic examination should be planned as regular surveillance of possible recurrence andmetastasis.…”

“…Complete physical and radiographic examination should be planned as regular surveillance of possible recurrence andmetastasis. 6 Othersupportivemeasures,suchasvitaminDsupplements and a psychosocial assistant, are necessary. 2 Gene therapy has shown exciting results but has not yet arrived at clinical practice.…”

“…All patients with XP should be under regular surveillance for malignant tumors as well as ocular and neurologic complications . Excisional surgery should be considered once an invasive tumor is detected, and aesthetic reconstruction with tissues from UV-protected body sites are thought to be rewarding . If regional lymph nodes are invaded, radical lymphadenectomy should be considered when feasible and well tolerated by the patient .…”

“…Postoperative adjuvant therapy is recommended while the detailed therapeutic plan is largely empirical. Complete physical and radiographic examination should be planned as regular surveillance of possible recurrence and metastasis . Other supportive measures, such as vitamin D supplements and a psychosocial assistant, are necessary .…”