HI (HARLEQUIN ICHTHYOSIS) BABY

Dipankar Maiti, Shreyasi Hui, Triyasha Adhikary, Soumik Banerjee

Abstract


HI is a very rare type of genetical abnormality but can be seen and scared by seeing various social media footages. It is associated with deletion and truncation mutations of a keratinocyte lipid transporter. Harlequin disorder is categorized  by diffuse epidermal hyperkeratinization along with defective desquamation. During birth, the HI phenotype is conspicuous with thick hyperkeratotic plate-like scales with deep dermal fissures, severe ectropion and eclabium, among other findings. In this ichthyosis marked eclabium and ectropion are present secondary to the taut as well as in the unyielding skin. The ears may be inattentive, absent or poorly developed. Even the arms, feet, and digits have flexion contractures and may be hypoplastic. The skin wall is harshly compromised, leading to undue water loss, causes electrolyte abnormalities, temperature alteration and an increased risk of deadly infection. Some of the primary treatments are smearing retinoids application for shedding the hard and scaly skin, topical antibiotics application can prevent infection, insertion an ET tube in the airway to assistance with breathing, applying lubricating eye drops or protective devices on the eyes. Following ongoing treatment like humidified incubator (for premature infants), continuous monitoring of TPR and SpO2, early intubation(optional), frequent cultures of the skin should be taken for lab testing, monitoring serum electrolyte levels, maintaining a germ-free environment to evade infection etc.


Keywords


Harlequin ichthyosis, ABCA12 Gene, Hyosis Fetalis & Genetic Mutation

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References


"Harlequin ichthyosis". Genetics Home Reference. November 2008. Archived from the original on July 28, 2017. Retrieved July 18, 2017

Harlequin Ichthyosis - NORD (National Organization for Rare Disorders) [Internet]. [cited 2021 Sep 27]. Available from: https://rarediseases.org/rare-diseases/ichthyosis-harlequin-type/

Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.[page needed]

James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.

Schachner, Lawrence A.; Hansen, Ronald C. (2011). Pediatric Dermatology E-Book. Elsevier Health Sciences. p. 598. ISBN 978-0723436652. Archived from the original on November 5, 2017.

Ahmed, H; O'Toole, E (2014). "Recent advances in the genetics and management of Harlequin Ichthyosis". Pediatric Dermatology. 31 (5): 539–46. doi:10.1111/pde.12383. PMID 24920541. S2CID 34529376.

Harlequin ichthyosis: MedlinePlus Genetics [Internet]. [cited 2021 Sep 27]. Available from: https://medlineplus.gov/genetics/condition/harlequin-ichthyosis/#synonyms

Harvey HB, Shaw MG, Morrell DS. Perinatal management of harlequin ichthyosis: a case report and literature review. J Perinatol 2010 301 [Internet]. 2009 Dec 29 [cited 2021 Sep 27];30(1):66–72. Available from: https://www.nature.com/articles/jp2009100

Rajpopat S, Moss C, Mellerio J, Vahlquist A, Gånemo A, Hellstrom-Pigg M, et al. Harlequin ichthyosis: A review of clinical and molecular findings in 45 cases. Arch Dermatol. 2011 Jun;147(6):681–6.

Harlequin Ichthyosis: Background, Etiology, Epidemiology [Internet]. [cited 2021 Oct 1]. Available from: https://emedicine.medscape.com/article/1111503-overview

Harlequin Ichthyosis: Background, Etiology, Epidemiology [Internet]. [cited 2021 Oct 1]. Available from: https://emedicine.medscape.com/article/1111503-overview#a6

Rajpopat S, Moss C, Mellerio J, Vahlquist A, Gånemo A, Hellstrom-Pigg M, et al. Harlequin ichthyosis: A review of clinical and molecular findings in 45 cases. Arch Dermatol. 2011 Jun;147(6):681–6.

Progress of a harlequin fetus to nonbullous ichthyosiform erythroderma. [Internet]. [cited 2021 Oct 5]. Available from: https://reference.medscape.com/medline/abstract/3186377

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. [Internet]. [cited 2021 Oct 5]. Available from: https://reference.medscape.com/medline/abstract/20643494

Rajpopat S, Moss C, Mellerio J, Vahlquist A, Gånemo A, Hellstrom-Pigg M, et al. Harlequin ichthyosis: A review of clinical and molecular findings in 45 cases. Arch Dermatol. 2011 Jun;147(6):681–6.

Rajpopat S, Moss C, Mellerio J, Vahlquist A, Gånemo A, Hellstrom-Pigg M, et al. Harlequin ichthyosis: A review of clinical and molecular findings in 45 cases. Arch Dermatol. 2011 Jun;147(6):681–6.

Rathore S, David LS, Beck MM, Bindra MS, Arunachal G. Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis. J Clin Diagn Res [Internet]. 2015 Nov 1 [cited 2021 Oct 5];9(11):QD04. Available from: /pmc/articles/PMC4668483/

Rajpopat S, Moss C, Mellerio J, Vahlquist A, Gånemo A, Hellstrom-Pigg M, et al. Harlequin ichthyosis: A review of clinical and molecular findings in 45 cases. Arch Dermatol. 2011 Jun;147(6):681–6.

Improving outcomes for harlequin ichthyosis. [Internet]. [cited 2021 Oct 5]. Available from: https://reference.medscape.com/medline/abstract/24124810

Ichthyosis in the newborn. [Internet]. [cited 2021 Oct 5]. Available from: https://reference.medscape.com/medline/abstract/23419760

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. [Internet]. [cited 2021 Oct 5]. Available from: https://reference.medscape.com/medline/abstract/21339420

Harlequin ichthyosis: neonatal management and identification of a new ABCA12 mutation. [Internet]. [cited 2021 Oct 5]. Available from: https://reference.medscape.com/medline/abstract/24274932

Rapid improvement in digital ischemia and acral contracture in a collodion baby treated with topical tazarotene. [Internet]. [cited 2021 Oct 5]. Available from: https://reference.medscape.com/medline/abstract/20645539

Harlequin Ichthyosis Treatment & Management: Approach Considerations, Medical Care, Consultations [Internet]. [cited 2021 Oct 5]. Available from: https://emedicine.medscape.com/article/1111503-treatment#d7

Harlequin fetus: A mayhem in a consanguineous marriage? 2021 [cited 2021 Oct 5]; Available from: https://doi.org/10.1002/ccr3.4540

Harvey HB, Shaw MG, Morrell DS. Perinatal management of harlequin ichthyosis: a case report and literature review. J Perinatol 2010 301 [Internet]. 2009 Dec 29 [cited 2021 Oct 5];30(1):66–72. Available from: https://www.nature.com/articles/jp2009100

Glick JB, Craiglow BG, Choate KA, Kato H, Fleming RE, Siegfried E, et al. Improved Management of Harlequin Ichthyosis With Advances in Neonatal Intensive Care. Pediatrics [Internet]. 2017 Jan 1 [cited 2021 Oct 5];139(1):2021. Available from: https://pediatrics.aappublications.org/content/139/1/e20161003

Harlequin Ichthyosis Baby – New Indian Journal of Pediatrics [Internet]. [cited 2021 Oct 5]. Available from: https://nijp.org/harlequin-ichthyosis-baby/

Naharro-Fernández C, Quintana-Sancho A de, López-Sundh AE, Cura LR, Gónzalez-López MA. Successful treatment of idiopathic Harlequin Syndrome with oxybutynin and propranolol. Australas J Dermatol [Internet]. 2021 [cited 2021 Oct 5]; Available from: https://onlinelibrary.wiley.com/doi/full/10.1111/ajd.13665

Gatmaitan-Dumlao JKG, Tababa EJL, Jao-Tan C, Frez MLF. Harlequin Ichthyosis in a Filipino Newborn: Management Pearls in a Resource-limited Setting. Acta Med Philipp [Internet]. 2021 Aug 27 [cited 2021 Oct 5];55(5):580–6. Available from: https://actamedicaphilippina.upm.edu.ph/index.php/acta/article/view/2764

Harlequin Ichthyosis - NORD (National Organization for Rare Disorders) [Internet]. [cited 2021 Oct 6]. Available from: https://rarediseases.org/rare-diseases/ichthyosis-harlequin-type


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