DOI: http://dx.doi.org/10.18203/issn.2455-4529.IntJResDermatol20160355

Jaundice in a baby with self-improving collodion ichthyosis and ALOX12B mutation- a challenging scenario

Indrajit Suresh, Jyotsna AS, Meenakshi Katyal, Sruthi Balla, Suryaprakash R. Kothe, Nirbheek S.

Abstract


Autosomal recessive congenital ichthyoses are a heterogeneous group of rare cornification diseases. Genetic mutations are responsible for the condition, with some causing a relatively milder phenotype such as ‘self-improving collodion ichthyosis’. In most cases, affected babies are born with a thick parchment like membrane covering their body. These babies may have a problematic postnatal course, and are prone to complications. The authors present the report of a newborn collodion baby afflicted with ALOX12B mutation, who had a challenging post natal course. Difficulties in feeding, temperature control, hydration and electrolyte balance were encountered and required precise monitoring and formulation of an effective treatment strategy. Treatment of jaundice in the baby also presented a unique challenge, which was successfully managed.

Keywords


Collodion, Ichthyosis, Mutation, ALOX12B, Jaundice, ARCI, SICI, Autosomal recessive

Full Text:

PDF

References


Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E et al. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol. 2010;63(4):607-41.

Richard G, Bale S. Autosomal Recessive Congenital Ichthyosis. University of Washington, Seattle. 2014. Accessed online from December 15, 2015.

Traupe H. The Ichthyoses: A Guide to Clinical Diagnosis, Genetic Counseling and Therapy, Springer, Heidelberg, Germany. 1989.

Van gysel D, Lijnen RL, Moekti SS, De laat PC, Oranje AP. Collodion baby: a follow-up study of 17 cases. J Eur Acad Dermatol Venereol. 2002;16(5):472-5.

Vahlquist A, Bygum A, Gånemo A, Virtanen M, Hellström-Pigg M, Strauss G et al. Genotypic and Clinical Spectrum of Self-Improving Collodion Ichthyosis: ALOX12B, ALOXE3, and TGM1 Mutations in Scandinavian Patients. Journal of Investigative Dermatology. 2010;130(2):438-43.

Frenk E, De techtermann F. Self-healing collodion baby: evidence for autosomal recessive inheritance. Pediatr Dermatol. 1992;9(2):95-7.

Taïeb A, Labrèze C. Collodion baby: what's new. J Eur Acad Dermatol Venereol. 2002;16(5):436-7.

Judge MR. Collodion baby and harlequin ichthyosis. In: Harper J, Oranje A, Prose N, editors. Textbook of pediatric dermatology.2nd ed. Malden: Blackwell publishing.2006;118-25.

Prado R, Ellis LZ, Gamble R, Funk T, Arbuckle HA, Bruckner AL. Collodion baby: an update with a focus on practical management. J Am Acad Dermatol. 2012;67:1362-74.

Kaushal M, Agarwal R, Aggarwal R Singal A, Upadhyay M, Srinivas V et al. Cling wrap, an innovative intervention for temperature maintenance and reduction of insensible water loss in very low-birthweight babies nursed under radiant warmers: a randomized, controlled trial. Ann Trop Paediatr. 2005;25(2):111-8.

Lee F, Wong P, Hill F, Burgner D, Taylor R. Evidence behind the WHO guidelines: hospital care for children: what is the role of prophylactic antibiotics in the management of burns? J Trop Pediatr. 2009;55:73–7.

Grünhagen DJ, De boer MG, De beaufort AJ, Walther FJ. Transepidermal water loss during halogen spotlight phototherapy in preterm infants. Pediatr Res. 2002;51(3):402-5.

Mashima R, Okuyama T. The role of lipoxygenases in pathophysiology; new insights and future perspectives. Redox Biol. 2015;6:297-310.

Jobard F, Lefèvre C, Karaduman A, A, Blanchet-Bardon C, Emre S, Weissenbach J, Ozgüc M, Lathrop M, Prud'homme JF, Fischer J. et al. Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Hum Mol Genet. 2002;11(1):107-3.