Literature DB >> 9777579

Collodion baby concomitant with congenital hypothyroidism: a patient report and review of the literature.

S Kurtoğlu1, H Caksen, R Erdoğan, A F Kisaarslan.   

Abstract

Collodion baby is a rare congenital disorder resembling harlequin fetus but is milder in degree. Although it has been reported that harlequin fetus is associated with kidney abnormalities, malignant keratoma, micromelia, polydactyly, thymic atrophy and thyroid aplasia, there are few reports of collodion baby associated with congenital abnormality and/or disease in the literature. A newborn infant admitted with shedding of the skin and diagnosed as collodion baby concomitant with congenital hypothyroidism is presented here. This is the first case of collodion baby associated with congenital hypothyroidism in the literature to our knowledge.

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Year:  1998        PMID: 9777579     DOI: 10.1515/jpem.1998.11.4.569

Source DB:  PubMed          Journal:  J Pediatr Endocrinol Metab        ISSN: 0334-018X            Impact factor:   1.634


  3 in total

1.  Collodion baby case series: the success of oral retinoic acid.

Authors:  Banu Mutlu Özyurt; Özge Sürmeli Onay; Özlem Ersoy
Journal:  Turk Pediatri Ars       Date:  2018-03-01

2.  Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene.

Authors:  Nacim Louhichi; Ikhlass Hadjsalem; Slaheddine Marrakchi; Fatma Trabelsi; Abderrahmen Masmoudi; Hamida Turki; Faiza Fakhfakh
Journal:  Mol Biol Rep       Date:  2012-11-29       Impact factor: 2.316

3.  Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype.

Authors:  Pálma Anker; Norbert Kiss; István Kocsis; Éva Czemmel; Krisztina Becker; Sára Zakariás; Dóra Plázár; Klára Farkas; Balázs Mayer; Nikoletta Nagy; Márta Széll; Nándor Ács; Zsuzsanna Szalai; Márta Medvecz
Journal:  Life (Basel)       Date:  2021-06-27
  3 in total

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