​Fanconi anaemia (FA) is a rare phenotypically variable chromosomal breakage disorder that is considered the commonest inherited bone marrow failure (BMF) syndrome (1–3). The DNA repair abnormality typically results from recessive mutations in over 22 FANC genes (FANCA-FANCW) resulting in a multitude of congenital abnormalities, cutaneous changes, solid tumours, including squamous cell carcinomas (SCC) of the head and neck, as well as progressive BMF. Almost two-thirds of mutations occur in FANCA. Patients are usually diagnosed within the first decade of life (median of 7 years) with haematological abnormalities including myelodysplastic syndrome, acute myeloid leukaemia, and BMF (4). The phenotype, however, is highly variable, ranging from minimal symptoms to BMF and early death (5). Congenital abnormalities are common, grouped typically as VACTERL-H (Vertebral, Anal, Cardiac, Tracheo-esophageal fistula, Esophageal atresia, Renal, upper Limb and Hydrocephalus) or less commonly PHENOS (skin Pigmentation, small Head, small Eyes, Nervous system, Otology, Short stature) (1, 3–6). Cutaneous manifestations are one of the clinical hallmarks of FA and present mainly as skin pigmentation such as freckling or café-au-lait spots (7). Patients also have a 700-fold increased risk of developing SCC of the head and neck and have deleterious radiosensitivity (8, 9). Attempts have been made to correlate phenotypic severity with mutation type within the various complementation groups and the affected FANC protein domains. Yet, solid genotype–phenotype correlation remains elusive as many identical mutations within the same complementation group manifest differently, even among monozygotic twins. This could result from various modulating factors including dietary, environmental and epigenetic factors, as well as potential revertant mosaicism described frequently in FA (1, 3, 10).​​