scholarly journals Management of New Born with Harlequin Ichthyosis: A Rare Disease Condition

2021 ◽  
pp. 114-117
Author(s):  
Mayur B. Wanjari ◽  
Deeplata Mendhe ◽  
Pratibha Wankhede
Keyword(s):  
Nursing Care ◽  
Initial Phase ◽  
Severe Form ◽  
Facial Appearance ◽  
Severe Morbidity ◽  
Specific Guideline ◽  
Disease Condition ◽  
Harlequin Ichthyosis ◽  
Scaly Skin ◽  
Shaped Pattern

Harlequin ichthyosis is the most severe form of non-bullous ichthyosis, which is unusual in newborns and is usually marked by deadly excessive keratinization of the skin. Ichthyosis is a family of genetic skin disorders, characterized by dry, thickened, scaly skin with severe morbidity and mortality. The term “harlequin” derives from the facial appearance and the triangular and diamond-shaped pattern of the scaly skin. It occurs in about 1 in 300,000 births and has no known sex predilection. The disorder affects the skin in utero causing thick, horny, armory-like plates that cover the skin with contraction abnormalities of the eyes, ears, mouth and appendages. There is no specific guideline to manage the newborn of harlequin ichthyosis, in that nursing care is most important in the initial phase. There are required multi-disciplinary teams to take care of harlequin ichthyosis.

scholarly journals A Case Report on Congenital Ichthyosis - Collodion Baby

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

Dry skin disorders

2020 ◽  
pp. 403-416
Keyword(s):  
Clinical Sign ◽  
Underlying Mechanism ◽  
Skin Disorders ◽  
Dry Skin ◽  
Netherton Syndrome ◽  
Collodion Baby ◽  
Harlequin Ichthyosis ◽  
The Common ◽  
Scaly Skin ◽  
Recessive Ichthyosis

This chapter on dry skin disorders describes a range of mainly genetic dermatoses whose predominant feature is dry scaly skin. It excludes conditions such as eczema where dry skin is a secondary clinical sign. The underlying mechanism of dry scaly skin is briefly discussed and an algorithm points to possible diagnoses. The focus is on the genetic ichthyoses, defined as congenital, lifelong, generalized dry and scaly skin. The common ichthyoses are non-inflammatory (ichthyosis vulgaris and X-linked recessive ichthyosis) but there are several inflammatory ichthyoses, some associated with fragile skin (blistering) and several with multisystem complications, such as Netherton syndrome. Salient features of each are reviewed with illustrations of selected cases and management is outlined. Two important neonatal presentations, collodion baby and harlequin ichthyosis, are described.

scholarly journals Aggressive Periodontitis in a Nigerian Teaching Hospital

2014 ◽  
Vol 15 (4) ◽  
pp. 518-522
Author(s):  
Solomon Olusegun Nwhator ◽  
Iyobosa Uhunmwangho ◽  
Benedict Chukwuma ◽  
Osagie Ikponmwosa
Keyword(s):  
Teaching Hospital ◽  
Financial Constraints ◽  
Treatment Options ◽  
Case Series ◽  
Aggressive Periodontitis ◽  
Severe Form ◽  
Effective Management ◽  
Severe Morbidity ◽  
Traditional Age ◽  
Prompt Diagnosis

ABSTRACT Aim These case series were aimed at highlighting late presentations of aggressive periodontitis (AP) in a teaching hospital as well as proffering possible reasons for such presentations which would serve as part of the solution to prevent such presentations in the future. Background Aggressive periodontitis is a severe form of destructive periodontitis traditionally believed to present around puberty. However, many cases seen in a teaching hospital presented much later for yet-to-be explained reasons. Case description Seven patients referred to the specialist periodontal clinic of a Nigerian teaching hospital presented with clinical features consistent with AP. Most of the patients were over twenty and some over thirty years of age. Conclusion Aggressive periodontitis patients seen in our center were often outside the traditional age brackets. The range of treatment options available to the patients were under-utilized due to serious financial constraints. Clinical significance Aggressive periodontitis comes with serious psychological challenges and severe morbidity. Prompt diagnosis and effective management hold the key to success It is important to investigate why many of the cases seen in our center presented that late. Could be due to ignorance and poverty or could be due to failure of dentists recognize these cases and consequent misdiagnosis? Further studies are needed to answer these questions. How to cite this article Nwhator SO, Uhunmwangho I, Chukwuma B, Ikponmwosa O. Aggressive Periodontitis in a Nigerian Teaching Hospital. J Contemp Dent Pract 2014;15(4): 518-522.

scholarly journals Harlequin fetus – Icthyosis fetalis: Case report

2021 ◽  
Author(s):  
Senai Sereke ◽  
Semhar Berhe ◽  
Felix Bongomin
Keyword(s):  
Case Report ◽  
Severe Form ◽  
Congenital Ichthyosis ◽  
Scaly Skin

We are presenting a newborn with a very rare and most severe form of congenital ichthyosis that is characterized by a thick, heavily keratinized and scaly skin.

HI (HARLEQUIN ICHTHYOSIS) BABY

2021 ◽  
pp. 8-11
Author(s):  
Dipankar Maiti ◽  
Shreyasi Hui ◽  
Triyasha Adhikary ◽  
Soumik Banerjee
Keyword(s):  
Continuous Monitoring ◽  
Eye Drops ◽  
Rare Type ◽  
Early Intubation ◽  
Increased Risk ◽  
Harlequin Ichthyosis ◽  
Free Environment ◽  
Lipid Transporter ◽  
Scaly Skin ◽  
Electrolyte Abnormalities

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 ssures, severe ectropion and eclabium, among other ndings. 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 exion 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 humidied 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.

Robin's Syndrome in Three Children of Consanguineous Parents — A Pedigree Suggesting Autosomal Recessive Inheritance

1972 ◽  
Vol 21 (4) ◽  
pp. 349-353
Author(s):  
Giuseppe Russo ◽  
Florindo Mollica ◽  
Lorenzo Pavone ◽  
Salvatore Musumeci
Keyword(s):  
Cleft Palate ◽  
Surgical Management ◽  
Nursing Care ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Severe Form ◽  
Consanguineous Marriage ◽  
Recessive Inheritance ◽  
The Third ◽  
Paternal Line

SummaryA family is described in which three siblings were affected by Robin's syndrome (micrognathia and glossoptosis with cleft palate) in its severe form. Two children died very early in life, the third is surviving after surgical management and appropriate nursing care. The children were born from a consanguineous marriage (their parents were first cousins). This pedigree is highly suggestive of an autosomal recessive kind of inheritance. Malformations of the extremities (hands and/or feet) were present in the probands as well as in two relatives of the paternal line.

scholarly journals 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

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.

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

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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