Harlequin Ichthyosis in a Filipino Newborn:  Management Pearls in a Resource-limited Setting

Introduction. Harlequin ichthyosis (HI) is a rare type of autosomal recessive congenital ichthyosis. There are approximately 200 documented cases worldwide, with less than five published reports in the Philippines. Despite its rarity, current literature suggests a better prognosis for these patients. Case description. We describe a preterm male newborn who presented at birth enclosed in a thick hyperkeratotic armor-like scale plates with areas of fissures, with associated ectropion, conjunctiva dehiscence, and eclabium. The thickened encasement also covered the hands and feet, causing severe contractures. A diagnosis of harlequin ichthyosis was given based on the clinical features. The patient was managed through a multidisciplinary approach, including referral to the tele-ichthyosis platform of a US-based foundation for patients with ichthyosis. Thermoregulation, nutrition, and hydration were carefully managed. Bland emollients were applied generously following normal saline soaks to improve barrier protection. Acitretin was administered on day 2 of life to facilitate the desquamation of the thickened encasement. A marked decrease in erythema and the thickness of the hyperkeratotic skin, and reduced conjunctival dehiscence were noted after one week of therapy. However, the constrictions on the hands and feet showed bluish discoloration and signs of necrosis. Linear band excision was performed to release the constrictors. Despite aggressive management, the patient succumbed to sepsis on day 12 of life. Conclusion. Improved prognosis amongst HI patients is correlated with optimal quality of care regardless of resource limitations. A multidisciplinary approach and early administration of retinoids cannot be overemphasized. Linear band excision within the first week of life is suggested for constrictions on the extremities that do not improve with retinoids to avoid necrosis and autoamputation.

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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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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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Transglutaminase 1 deficiency and corneocyte collapse: an indication for targeted molecular screening in autosomal recessive congenital ichthyosis

British Journal of Dermatology ◽

10.1111/j.1365-2133.2007.08070.x ◽

2007 ◽

Vol 157 (4) ◽

pp. 808-810 ◽

Cited By ~ 10

Author(s):

G. Esposito ◽

G. Tadini ◽

F. Paparo ◽

A. Viola ◽

L. Ieno ◽

...

Keyword(s):

Autosomal Recessive ◽

Molecular Screening ◽

Congenital Ichthyosis ◽

Transglutaminase 1 ◽

Autosomal Recessive Congenital Ichthyosis

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ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenetic conceptsa

Human Mutation ◽

10.1002/humu.21326 ◽

2010 ◽

Vol 31 (10) ◽

pp. 1090-1096 ◽

Cited By ~ 64

Author(s):

Masashi Akiyama

Keyword(s):

Autosomal Recessive ◽

Congenital Ichthyosis ◽

Autosomal Recessive Congenital Ichthyosis

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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 of Apert Syndrome in a Fifty-Eight Year Old Female

International Healthcare Research Journal ◽

10.26440/ihrj/0311.02318 ◽

2020 ◽

Vol 3 (11) ◽

pp. 352-354

Author(s):

Pooja Gaur

Keyword(s):

Case Report ◽

Clinical Care ◽

Open Bite ◽

Apert Syndrome ◽

Facial Features ◽

Type I ◽

Anterior Open Bite ◽

Rare Type ◽

Patient Reported ◽

Hands And Feet

Defined as a rare type I acrocephalosyndactyly syndrome which is clinically characterized by dysmorphic facial features, craniosynostosis, and severe syndactyly of the hands and feet, Apert Syndrome represents an autosomal dominant inheritance which occurs due to the gene mutations in the receptors of the fibroblast growth factor. Oral lesions include tooth crowding, reduction in the size of the maxilla, impacted teeth, anterior open-bite, ectopic eruption, delayed eruption, thick gingiva and supernumerary teeth. The present case report describes a 58 year old female patient reported with the features of Apert’s syndrome such as dysmorphic facial features, occular anomalies, syndactyly and oral features. The case was referred to a specialized centre of clinical care for further treatment.

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Mutations in Transglutaminase 1 Gene in Autosomal Recessive Congenital Ichthyosis in Egyptian Families

Disease Markers ◽

10.1155/2004/965968 ◽

2004 ◽

Vol 20 (6) ◽

pp. 325-332 ◽

Cited By ~ 8

Author(s):

R. M. Shawky ◽

N.S. Sayed ◽

N.A. Elhawary

Keyword(s):

Restriction Endonuclease ◽

Splice Site ◽

Autosomal Recessive ◽

Splice Mutation ◽

The Other ◽

Splice Acceptor ◽

Acceptor Splice Site ◽

Congenital Ichthyosis ◽

Transglutaminase 1 ◽

Autosomal Recessive Congenital Ichthyosis

Autosomal recessive congenital ichthyosis (ARCI) is a rare heterogeneous keratinization disorder of the skin. It is clinically divided into 2 subtypes, lamellar ichthyosis (LI) and congenital ichthyosiformis erythroderma (CIE). We investigated forty-three ARCI Egyptian individuals in 16 severe LI, and 10 CIE families. We identified 5 alleles in two Egyptian families as having intron-5/exon-6 splice acceptor mutation recognized by theMspIrestriction endonuclease. This promoted to a frequency of 9.6% for this mutation (5 splice-mutation alleles/52 alleles tested). We extended our previous dataset to update the detection of R142H mutation in 4 CIE Egyptian families and one LI phenotype (frequency of 28.8%; 15/52), whereas we still had no R141H among our Egyptian population. There was no correlation between phenotype and genotype in our study. Surprisingly, the mutant alleles detected in intron-5 acceptor splice-site were associated with the other extreme of CIE phenotypes rather than the severe LI form. We clearly demonstrated that the ARCI Egyptian families in Upper Egypt was ethnically pure and had a tendency not to be a hybrid with other populations in Lower Egypt, Delta zone and Cairo city.

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