Rothmund–Thomson Syndrome, Bloom Syndrome, Dyskeratosis Congenita, Fanconi Anaemia and Poikiloderma with Neutropenia

Wang, Lisa L.; Levy, Moise L.

doi:10.1002/9781119142812.ch140

Cited by 1 publication

(2 citation statements)

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“…FA is associated with risks for bone marrow failure, acute myeloid leukemia/myelodysplastic syndrome, congenital abnormalities, endocrine anomalies, and/or solid cancers. Dr. Guido Fanconi’s characterization of three brothers in a family in 1927 lead to the naming of FA, though it was not for another 40 years that the mechanism of spontaneous chromosomal breakage was identified as the etiology of FA ( 32 , 33 ). The cutaneous manifestations associated with FA include both phenotypic manifestations, such as café au lait macules, as well as an increased risk to develop cutaneous carcinomas.…”

Section: Fanconi Anemiamentioning

confidence: 99%

“…Pigmentary changes of the skin have been reported by case series as the most common (up to 68%) cutaneous skin feature in FA. These pigmentary changes include cafe-au-lait macules (CALMs), flexural hyperpigmentation, and hypopigmented macules ( 32 , 50 ). In a recent review of cutaneous features in FA, at least one cutaneous feature was present in 97% of participants with the most common being CALMs.…”

Section: Fanconi Anemiamentioning

confidence: 99%

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

et al. 2022

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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.

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Section: Fanconi Anemiamentioning

confidence: 99%

Section: Fanconi Anemiamentioning

confidence: 99%