Non-Melanoma Skin Cancers and Other Cutaneous Manifestations in Bone Marrow Failure Syndromes and Rare DNA Repair Disorders

Abstract

Although most non-melanoma skin cancers are felt to be sporadic in origin, these tumors do play a role in several cancer predisposition syndromes. The manifestations of skin cancers in these hereditary populations can include diagnosis at extremely early ages and/or multiple primary cancers, as well as tumors at less common sites. Awareness of baseline skin cancer risks for these individuals is important, particularly in the setting of treatments that may compromise the immune system and further increase risk of cutaneous malignancies. Additionally, diagnosis of these disorders and management of non-cutaneous manifestations of these diseases have profound implications for both the patient and their family. This review highlights the current literature on the diagnosis, features, and non-melanoma skin cancer risks associated with lesser-known cancer predisposition syndromes, including bone marrow failure disorders, genomic instability disorders, and base excision repair disorders.

Organ‐based clues for diagnosis of inborn errors of immunity: A practical guide for clinicians

“…Individuals with AT and bone marrow failure syndromes are more susceptible to female breast cancer. 9 , 18 , 47 , 56 , 59 HPV‐related papilloma cancer is seen in WHIM syndrome or EVER1, EVER2, MST1, RHOH, MAGT1, ITK deficiencies. 14 Squamous cell carcinoma (SCC) and BCC is reported in HIES due to DOCK8 deficiency.…”

“…Patients with CHH or bone marrow failure syndromes have an increased risk of skin cancers. Individuals with AT and bone marrow failure syndromes are more susceptible to female breast cancer 9,18,47,56,59 . HPV‐related papilloma cancer is seen in WHIM syndrome or EVER1, EVER2, MST1, RHOH, MAGT1, ITK deficiencies 14 .…”