Harlequin ichthyosis: A rare case

Harlequin ichthyosis is a very rare condition that affects the skin of newborns. It is associated with poor barrier function of the skin leading to dehydration and leaves newborns prone to infections. It is due to mutations in adenosine triphosphate binding cassette A12 gene transmitted as an autoso...

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Bibliographic Details
Published inTurkish journal of obstetrics and gynecology Vol. 14; no. 2; pp. 138 - 140
Main Authors Shruthi, Belide, Nilgar, B R, Dalal, Anita, Limbani, Nehaben
Format Journal Article
LanguageEnglish
Published Turkey Türk Jinekoloji ve Obstetrik Derneği 01.06.2017
Galenos Publishing
Subjects
Case Report
Kadın Hastalıkları
Tıp
Ankara
Türkiye
adenosine triphosphate binding cassette A12
autosomal recessive
Harlequin ichthyosis
adenozin trifosfat bağlayıcı kaset A12
otozomal resesif
Harlequin iktiyozis
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Summary:Harlequin ichthyosis is a very rare condition that affects the skin of newborns. It is associated with poor barrier function of the skin leading to dehydration and leaves newborns prone to infections. It is due to mutations in adenosine triphosphate binding cassette A12 gene transmitted as an autosomal recessive disorder. The prognosis is very poor in these cases. Here, we report one such rare case.
ISSN:2149-9322
2149-9330
DOI:10.4274/tjod.63004