A RARE CASE OF HARLEQUIN ICHTHYOSIS SUCCESSFULLY TREATED WITH ACITRETIN: A CASE REPORT AND LITERATURE REVIEW

Harlequin Ichthyosis is the most serious congenital keratinization disorder. When the children are born, they are enveloped in thick horn armor. They are thick yellow horn plates that tear deeply when they dry out. In the most severe form, the children often die in the first few weeks of life. But there are also many milder courses, whereby there are obviously flowing transitions from collodion baby to harlequin ichthyosis. The skin condition later corresponds to that of a child with severe congenital ichthyosis (ARCI). Similar to the collodion baby, cases of harlequin ichthyosis should initially be cared for in the intensive care unit for newborns and require interdisciplinary therapy. Harlequin ichthyosis is caused by very special mutations in the ABCA12 gene. These mutations also have an impact on survival. If homozygous mutations are present, the prospects are worse than if the parents have heterozygous mutations. Homozygous mutations are often present when the parents are consanguineous.

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

Life ◽

10.3390/life11070624 ◽

2021 ◽

Vol 11 (7) ◽

pp. 624

Author(s):

Pálma Anker ◽

Norbert Kiss ◽

István Kocsis ◽

Éva Czemmel ◽

Krisztina Becker ◽

...

Keyword(s):

Genetic Diseases ◽

Severity Index ◽

Severe Form ◽

Heterozygous Mutation ◽

Lipoxygenase Pathway ◽

Severe Condition ◽

Skin Changes ◽

Congenital Ichthyosis ◽

Autosomal Recessive Congenital Ichthyosis ◽

Collodion Baby

Collodion baby is a congenital, transient phenotype encountered in approximately 70–90% of autosomal recessive congenital ichthyosis and is an important entity of neonatal erythroderma. The clinical outcome after this severe condition is variable. Genetic mutations of components of the epidermal lipoxygenase pathway have been implicated in the majority of self-improving collodion ichthyosis (SICI). In SICI, the shedding of the collodion membrane reveals clear skin or only mild residual manifestation of ichthyosis. Here we report the case of a girl born with a severe form of collodion baby phenotype, whose skin almost completely cleared within the first month of life. At the age of 3 years, only mild symptoms of a keratinization disorder remained. However, the severity of erythema and scaling showed mild fluctuations over time. To objectively evaluate the skin changes of the patient, we assessed the ichthyosis severity index. Upon sequencing of the ALOX12B gene, we identified a previously unreported heterozygous nonsense mutation, c.1607G>A (p.Trp536Ter) with the recurrent, heterozygous mutation c.1562A>G (p.Tyr521Cys). Thereby, our findings expand the genotypic spectrum of SICI. In addition, we summarize the spectrum of further genetic diseases that can present at birth as collodion baby, in particular the SICI.

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A Case Report on Congenital Ichthyosis - Collodion Baby

Faridpur Medical College Journal ◽

10.3329/fmcj.v11i1.30880 ◽

2016 ◽

Vol 11 (1) ◽

pp. 39-42

Author(s):

Md Kamrul Hassan ◽

Aloke Kumar Saha ◽

Poly Begum ◽

Tahmina Akter ◽

Shyamol Kumar Saha

Keyword(s):

Case Report ◽

Initial Phase ◽

Severe Form ◽

Clinical Entity ◽

Self Healing ◽

Lamellar Ichthyosis ◽

Congenital Ichthyosis ◽

Ichthyosis Vulgaris ◽

Collodion Baby ◽

Lamellar Type

Collodion baby describes a highly characteristic clinical entity in newborns encased in a yellowish translucent membrane resembling collodion. In most cases the condition either precedes the development of one of a variety of ichthyoses, the commonest of which are lamellar ichthyosis and non-bullous ichthyosiform erythroderma, or occasionally represents an initial phase of other ichthyoses such as ichthyosis vulgaris. In at least 10% of all cases of collodion baby, the condition is followed by a mild ichthyosis of lamellar type, so mild as to be considered more or less normal, so-called self-healing collodion baby or 'lamellar ichthyosis of the newborn'. In this report, we present a severe form of ichthyosis.Faridpur Med. Coll. J. Jan 2016;11(1): 39-42

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A rare case of collodion baby with ophthalmic involvement

Nepalese Journal of Ophthalmology ◽

10.3126/nepjoph.v4i1.5874 ◽

1970 ◽

Vol 4 (1) ◽

pp. 184-186 ◽

Cited By ~ 2

Author(s):

U Bhardwaj ◽

A Phougat ◽

M Dey ◽

S Raut ◽

G Srivastav ◽

...

Keyword(s):

Rare Case ◽

Clinical Manifestations ◽

Neck Region ◽

Severe Form ◽

Clinical Entity ◽

Pediatric Department ◽

Collodion Baby

Background: Ichthyosis is an infrequent clinical entity worldwide (1:300,000 births). When diagnosed in a newborn, two forms can be identified: collodion baby and its most severe form, harlequin fetus or maligna keratoma. In both cases, clinical manifestations are thick and hard skin with deep splits. The splits are more prominent in the flexion areas. Case: We report a case of a 4- day-old baby who was referred to JNMC Eye OPD by the Pediatric Department of the JNMC. He was having severe bilateral ectropion of the upper lids and chemosis of conjuntiva, without corneal involvement. There was distortion of the pinna and peeling of the skin, more over the chest around the neck region and over the flexor aspect of limbs. Conclusion: Management of collodion baby requires a multi-disciplinary approach. DOI: http://dx.doi.org/10.3126/nepjoph.v4i1.5874 NEPJOPH 2012; 4(1): 184-186

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Juvenile idiopathic arthritis in Harlequin ichthyosis, a rare combination or the clinical spectrum of the disease? Report of a child treated with etanercept and review of the literature

Pediatric Rheumatology ◽

10.1186/s12969-021-00571-9 ◽

2021 ◽

Vol 19 (1) ◽

Author(s):

Francesco Baldo ◽

Michela Brena ◽

Simone Carbogno ◽

Francesca Minoia ◽

Stefani Lanni ◽

...

Keyword(s):

Juvenile Idiopathic Arthritis ◽

Severe Form ◽

Chronic Arthritis ◽

Case Presentation ◽

Congenital Ichthyosis ◽

Rare Combination ◽

Heterogenous Group ◽

Autosomal Recessive Congenital Ichthyosis ◽

Harlequin Ichthyosis ◽

Specific Manifestation

Abstract Background Harlequin ichthyosis (HI) is the most severe phenotype of autosomal recessive congenital ichthyosis. Juvenile Idiopathic Arthritis (JIA) represents a heterogenous group of disorders all sharing the clinical manifestation of chronic arthritis. Association of HI and chronic arthritis has been reported in few cases. Case presentation We report the case of a child with HI who developed a severe form of chronic polyarthritis during the first years of life, treated with repeated multiple joint injections, methotrexate and etanercept with good response and without any adverse events. Conclusion The reported case and the literature review highlighted the presence of a peculiar severe seronegative polyarthritis with early onset in a series of patients with HI, suggesting that polyarthritis may be a specific manifestation of HI, rather than a rare combination of two separate conditions.

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Harlequin Ichthyosis (HI) Associated with Atrial Septal Defect (ASD) and Choanal Atresia

Serbian Journal of Dermatology and Venerology ◽

10.2478/sjdv-2020-0015 ◽

2020 ◽

Vol 12 (3) ◽

pp. 97-99

Author(s):

Nitika S. Deshmukh ◽

Anil Gosavi ◽

Ravindranath B. Chavan ◽

Vasudha A. Belgaumkar

Keyword(s):

Atrial Septal Defect ◽

Septal Defect ◽

Heart Diseases ◽

Choanal Atresia ◽

Autosomal Recessive Inheritance ◽

Severe Form ◽

Complete Evaluation ◽

Congenital Ichthyosis ◽

2D Echocardiography ◽

Harlequin Ichthyosis

Abstract Harlequin ichthyosis (HI) is a severe form of congenital ichthyosis with autosomal recessive inheritance. Incidence of harlequin ichthyosis is 1 in 3,00,000 live births. We report a case of HI associated with bilateral choanal atresia and atrial septal defects, which is a rare association in this skin disorder. A-month-old preterm male baby born out of consanguineous marriage presented with features of armour-like scales and erythema all over body, ectropion, eclabium and fissures over flexures. The patient was born with a colloidion membrane at birth. The baby was operated for bilateral choanal atresia soon after birth because he developed cyanosis upon breast feeding which improved on crying. Upon flexible nasal endoscopy, diagnosis of membranous type of choanal atresia was confirmed by ENT (ear, nose, throat) surgeon. Heart auscultation revealed a murmur in our patient. Electrocardiogram and 2D Echocardiography was reported as atrial septal defect (4.5 mm OsASD). The patient was started on acitretin (1 mg/kg/day) and emollients after complete evaluation and is currently on regular follow up. Harlequin ichthyosis is linked to mutation of ABCA12 gene. It is often associated with eclabium, ectropion, hypoplastic nose, ears and fingers. Congenital heart diseases are rarely reported with HI in literature. This makes it mandatory to screen HI patients for internal defects.

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A Unique Preparation and Delivery Method for Acitretin for Neonatal Harlequin Ichthyosis

The Journal of Pediatric Pharmacology and Therapeutics ◽

10.5863/1551-6776-23.2.164 ◽

2018 ◽

Vol 23 (2) ◽

pp. 164-167 ◽

Cited By ~ 1

Author(s):

Kriti Damodaran ◽

Alok Bhutada ◽

Shantanu Rastogi

Keyword(s):

Health Care Providers ◽

Oral Formulation ◽

Skin Condition ◽

Care Providers ◽

Delivery Method ◽

Rare Form ◽

Congenital Ichthyosis ◽

Harlequin Ichthyosis ◽

Risk Of Exposure ◽

Extemporaneous Preparation

Harlequin ichthyosis is a rare form of congenital ichthyosis with a distinct phenotypic appearance. We describe a case of a newborn baby with harlequin ichthyosis who was treated with an oral formulation of acitretin. The treatment resulted in a satisfactory improvement in the skin condition of the patient. The tolerance to the drug was good with no side effects in the patient. The aim of this case report is to highlight an extemporaneous preparation of acitretin from the commonly available capsule form, which is effective for use in neonates with harlequin ichthyosis. It also highlights the risk of exposure to health care providers to acitretin.

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Harlequin Ichthyosis the Most Severe Form of the Congenital Ichthyosis; A Case Report Study

Indian Journal of Forensic Medicine & Toxicology ◽

10.37506/ijfmt.v15i4.16991 ◽

2021 ◽

Keyword(s):

Case Report ◽

Severe Form ◽

Congenital Ichthyosis ◽

Harlequin Ichthyosis

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Harlequin Ichthyosis: A Rare Case of Congenital Ichthyosis

The Journal of Obstetrics and Gynecology of India ◽

10.1007/s13224-019-01207-5 ◽

2019 ◽

Vol 69 (3) ◽

pp. 292-293

Author(s):

Sonia Kataria ◽

Sangita Nangia Ajmani

Keyword(s):

Rare Case ◽

Congenital Ichthyosis ◽

Harlequin Ichthyosis

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Juvenile Idiopathic Arthritis in Harlequin Ichthyosis, a Rare Combination or the Clinical Spectrum of the Disease? Report of a Child Treated With Etanercept and Review of the Literature

10.21203/rs.3.rs-84750/v1 ◽

2020 ◽

Author(s):

Francesco Baldo ◽

Michela Brena ◽

Simone Carbogno ◽

Francesca Minoia ◽

Stefani Lanni ◽

...

Keyword(s):

Juvenile Idiopathic Arthritis ◽

Clinical Manifestation ◽

Severe Form ◽

Chronic Arthritis ◽

Review Of The Literature ◽

Congenital Ichthyosis ◽

Rare Combination ◽

Heterogenous Group ◽

Autosomal Recessive Congenital Ichthyosis ◽

Harlequin Ichthyosis

Abstract Background. Harlequin ichthyosis (HI) is the most severe phenotype of autosomal recessive congenital ichthyosis. Juvenile Idiopathic Arthritis (JIA) represents a heterogenous group of disorders all sharing the clinical manifestation of chronic arthritis. Association of HI and chronic arthritis has been reported in few cases. Case presentation. We report the case of a child HI who developed a severe form of chronic polyarthritis during the first years of life, treated with repeated multiple joint injections, methotrexate and etanercept with good response and any adverse events. Conclusion. The case reported, followed by a review of the literature, could suggest the possibility that the presence of this peculiar severe polyarthritis with early onset and FR / ANA negativity, could be part of the clinical manifestation of Harlequin Ichthyosis instead that a rare combination of two diseases as reported by previous papers.

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