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

13 Jul 2016

Abstract excerpt

Dear Editor, 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 neutropenia, Weary syndrome and Kindler syndrome.1 Moreover, the differential diagnosis may also include subtypes of porphyria and xeroderma...

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PMID: 27406236
DOI: 10.1111/bjd.14845

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Syndromic inherited poikiloderma due to a <i>de novo</i> mutation in <i> <scp>FAM</scp> 111B </i>PMID 27406236Read ↗

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