Syndromic inherited poikiloderma due to a de novo mutation in <scp>FAM</scp> 111B

Poikiloderma in neonates and infants often presents a diagnostic challenge, with the differential diagnosis including rare inherited disorders such as Rothmund-Thomson syndrome, Bloom syndrome, dyskeratosis congenita, Baller-Gerold syndrome, poikiloderma with neutropaenia, Weary syndrome and Kindler syndrome.1 Moreover, the differential diagnosis may also include subtypes of porphyria and xeroderma pigmentosum, as well as other rare metabolic, neoplastic, mitochondrial or premature ageing disorders, including Werner syndrome.