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Syndromic inherited poikiloderma due to a de novo mutation in FAM 111B
Author(s) -
Takeichi T.,
Nanda A.,
Yang H.S.,
Hsu C.K.,
Lee J.Y.Y.,
AlAjmi H.,
Akiyama M.,
Simpson M.A.,
McGrath J.A.
Publication year - 2017
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/bjd.14845
Subject(s) - poikiloderma , mutation , medicine , genetics , dermatology , biology , gene
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. 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. Recently, a new form of poikiloderma has been described: hereditary fibrosing poikiloderma with tendon contracture, myopathy and pulmonary fibrosis (POIKTMP). This is an autosomal dominant condition which was shown by whole-exome sequencing (WES) to result from mutations in FAM111B (Homo sapiens family with sequence