Risk of Non-Melanoma Skin Cancer in Patients With Rare Genodermatosis
Posted: Friday, September 13, 2019
Reportedly more than half of patients with Kindler syndrome—a rare autosomal-recessive genodermatosis noted by skin fragility with photosensitivity and acral blisters in younger patients—will develop squamous cell carcinoma in their lifetime. Close monitoring for early detection of this condition at premalignant stages is important to avoid progression of the tumor, according to a retrospective study published in the Orphanet Journal of Rare Diseases.
Sara Guerrero-Aspizua, PhD, of the Universidad Carlos III de Madrid, and colleagues characterized the frequency, metastatic potential, and body distribution of squamous cell carcinoma in a retrospective study of 91 patients with Kindler syndrome. Of these cases, 69 were previously reported and 22 were new.
Squamous cell carcinoma developed in 13 patients, with the youngest being 29 years old. In patients older than age 60, the risk of developing squamous cell carcinoma increased 66.7%. For patients with squamous cell carcinoma, research confirmed that 53.8% may develop metastatic disease. Five patients who developed squamous cell carcinoma died as a result of the tumor.
The analysis of the location of the tumors was based on 37 samples of squamous cell carcinoma. The majority of the tumors (28) developed in areas with sun exposure; 6 were in areas with no sun exposure; the remaining 3 were identified in moderately sun-exposed areas. Most tumors (78%) were on the face (13) or hands (16).
Researchers concluded, “This study characterizes squamous cell carcinomas in the largest series of Kindler syndrome patients reported so far, showing the high frequency and aggressiveness of these tumors. It also describes their particular body distribution and their relationship with mutations in the FERMT1 gene. These data reinforce the need for close monitoring of premalignant or malignant lesions in Kindler syndrome patients.”
Disclosure: The authors reported no conflicts of interest.