A 5-year study of skin adnexal tumours in a large teaching hospital with implications for linked genetic diagnoses

Abstract

Abstract Linked Article: Cook et al. Br J Dermatol 2022; 186:167–173. Skin adnexal tumours (SATs) are a rare type of tumour (abnormal growth) found in children and adults. SATs of different types may develop from hair follicles, sebaceous glands or sweat glands. It is often difficult to diagnosis SATs. Certain types of these growths may also be linked to an underlying genetic (inherited) condition, some of which carry an increased risk of cancer in other parts of the body such as the bowel or kidney. Under a microscope, a skin biopsy (where a small section of tissue is removed for testing) can be examined and SATs diagnosed by skin pathology experts. We wanted to look at the types of SATs found, and to look for ways to identify patients with linked genetic diagnosis better. This study took place in a large hospital in the UK, where more than 100,000 skin samples were received by pathologists over 5 years. Of these samples, 1615 were SATs. We found that prior to biopsy, only 28% of doctors got the diagnosis right, showing the importance of expert skin pathologists in diagnosing SATs. Many of the types of SATs looked at in this study had potential links to a genetic diagnosis. Determining if this link was true often required more clinical information, which is not usually available to the pathologist. We propose that pathologists in their reports to clinicians flag up any potential linked genetic diagnosis. This will allow the clinician to appropriately assess the patient and decide if genetic testing may be needed. SATs can have healthcare implications for the affected patient and family if they are found to have a linked genetic diagnosis. Linked Article: Cook et al. Br J Dermatol 2022; 186:167–173.