Search

Introduction: The term collodion baby refers to a clinical entity noted in newborns who are enmeshed by a translucent, cornified substance like sheets of uniform texture so called (collodion membrane) which gives the whole body surface a varnished appearance. Although, some other diseases and conditions may lead to collodion membrane formation, in almost all the cases the cause is an autosomal recessive ichthyosiform disease. Case Presentation: The first three cases are all from a consanguineously married couple of Fulani decent. The abnormal appearances of the babies’ skin were all noticed at birth. Parents are first cousins. The last case is a female born at GA of 40wks through emergency caesarian section due to poor progress of labor. She was admitted into the Newborn with abnormal skin. These series are crucial so as to enable the pediatrician have a high index of suspicion of its existence and to be equipped with the skills to tackle the numerous complications that follow the disease. They contribute to mortality and morbidity among children in Nigeria and the exact etiology is unknown. However genetic and environmental factors among others are commonly implicated. This report is thus aimed at presenting these abnormalities which are rather rare and to highlight that early intervention improves the outcome in patients with these conditions. Conclusion: Early recognition of this clinical entity and early institution of appropriate therapy can definitely reduce morbidity and mortality in neonates.

Congenital ichthyoses are relatively uncommon skin disorder s wi th worldwide occurrence. The ichthyoses are heterogenous disorders of keratinisation characterised by scaling of the skin of varying severity. This report describes a case of congenital ichthyosis in a preterm, male Hausa infant which happened to be the first case managed at the OOUTH, Sagamu. The infant was managed using stringent thermoregulat ion, optimal hydration, use of topical emollient and antibiotics. Although, the skin disorder resolved within fifteen days of treatment, the infant thereafter developed inguinoscrotal hernia and hydrocephalus necessitating surgical consult. The case is reported to highlight the good outcome of the cutaneous disorder following conservative management in a low-resource setting.

Background: Autosomal recessive congenital ichthyoses (ARCIs) are a clinically heterogeneous group of keratinization disorders characterized by generalized skin scaling due to mutations in at least 12 genes. The aim of our study was to assess disease severity, phenotypic, and ultrastructural features and to evaluate their association with genetic findings in ARCI patients. Methods: Clinical signs and symptoms, and disease severity were scored in a single-center series of patients with a genetic diagnosis of ARCI. Skin ultrastructural findings were reviewed. Results: Seventy-four consecutive patients (mean age 11.0 years, range 0.1–48.8) affected with lamellar ichthyosis (50/74, 67.5%), congenital ichthyosiform erythroderma (18/74, 24.3%), harlequin ichthyosis (two/74, 2.7%), and other minor ARCI subtypes (four/74, 5.4%) were enrolled. Mutated genes were as follows: TGM1 in 18/74 (24.3%) patients, ALOX12B in 18/74 (24.3%), CYP4F22 in 12/74 (16.2%), ABCA12 in nine/74 (12.2%), ALOXE3 in seven/74 (9.5%), NIPAL4 in seven/74 (9.5%), and CERS3, PNPLA1, and SDR9C7 in 1 patient each (1.4%). Twenty-five previously undescribed mutations in the different ARCI causative genes, as well as two microduplications in TGM1, and two microdeletions in CYP4F22 and NIPAL4 were identified. The mean ichthyosis severity score in TGM1- and ABCA12-mutated patients was significantly higher than in all other mutated genes, while the lowest score was observed in CYP4F22-mutated patients. Alopecia, ectropion, and eclabium were significantly associated with TGM1 and ABCA12 mutations, and large, thick, and brownish scales with TGM1 mutations. Among specific phenotypic features, psoriasis-like lesions as well as a trunk reticulate scale pattern and striated keratoderma were present in NIPAL4-mutated patients. Ultrastructural data available for 56 patients showed a 100% specificity of cholesterol clefts for TGM1-mutated cases and revealed abnormal lamellar bodies in SDR9C7 and CERS3 patients. Conclusion: Our study expands the phenotypic and genetic characterization of ARCI by the description of statistically significant associations between disease severity, specific clinical signs, and different mutated genes. Finally, we highlighted the presence of psoriasis-like lesions in NIPAL4-ARCI patients as a novel phenotypic feature with diagnostic and possible therapeutic implications. [ABSTRACT FROM AUTHOR]

Copyright of Pädiatrie & Pädologie is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Die Dermatologie is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction: Neonatal period is defined as the first 4 weeks of extrauterine life. The skin and appendages of the newborn present different features compared to adults. The imperative knowledge of normal phenomena and their differentiation from the more significant cutaneous disorders of the newborn is critical for dermatologists for timely intervention, which could facilitate a better therapeutic outcome. Materials and Methods: We conducted a hospital-based, observational, cross-sectional study of a total of 128 neonates with cutaneous manifestation from May 2021 to November 2021. Results were analyzed statistically. Results: Of all neonates examined, i.e., 128, 77 (60.15%) were male and 51 (39.85%) were female, with a male: female ratio of 1.5:1. 87 (67.96%) neonates were term, 35 (27.34%) were preterm, and 6 (4.68%) were postterm. 33 (25.78%) neonates had more than one cutaneous lesion. Of all the cutaneous lesions, physiological skin lesions were most common, which accounted for 70% of skin lesions, followed by iatrogenic 8%, transient noninfective conditions 5%, eczema 5%, developmental defects 4%, birthmarks 4%, and others 4%. Conclusion: Neonatal skin lesions are often physiological. Both dermatologists and pediatricians have to be aware of the course of the disease. Nursing mothers have to be explained the natural course of the skin lesions to reduce unnecessary anxiety; whereas to reduce iatrogenic infections, nursing staff has to be explained to handle newborn's skin with care as they are sensitive. [ABSTRACT FROM AUTHOR]

We report a unique case of self‐healing collodion baby (CB) that was successfully managed despite the risk of potentially serious complications. Self‐healing CB is a rare and distinct outcome of collodion phenotype occurring in approximately 10% of the cases. The outcome depends on the initial assessment and adequate multidisciplinary approach. The collodion baby indicates a phenotype that precedes the underlying disease entity. Although the outcome is difficult to predict in neonatal age, initial severity and time to membrane shedding may be indicative of the underlying condition. [ABSTRACT FROM AUTHOR]

Collodion baby is a rare congenital condition marked by a parchment-like membrane covering the body, often leading to complications such as bilateral ectropion. This condition poses risks of exposure keratopathy and other ocular issues. We present a case series of five infants with congenital bilateral ectropion associated with collodion babies, all born prematurely. Each case was treated with varying management approaches, including topical therapies and surgical interventions, with Case 1 experiencing recurrence despite surgical intervention, while the rest four cases demonstrated successful outcomes through appropriate treatments. Regular follow-up was essential for monitoring. Early and individualized treatment strategies are crucial for preventing complications in collodion babies with ectropion. This case series highlights the need for tailored management to optimize patient outcomes in this rare condition., Competing Interests: Human subjects: Consent for treatment and open access publication was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Karn et al.)

Abstract Background The term “collodion baby” is used to describe a newborn covered with a translucent, parchment-like skin sheet. It is an extremely rare condition with an estimated incidence of 1 in 300,000 live births. Clinically, the baby will present with a collodion membrane with fissures, ectropium, eclabium, and hypoplastic digits. Shedding of the membrane increases risk of dehydration and infection. Case presentation We present the case of an African baby girl, who died when she was 7-months old, who presented with features of collodion membrane at birth. She later developed hypernatremic dehydration and a constricted band on her lower limb that required urgent surgical release. She stayed in our hospital for 35 days; she was then discharged home after improvement for 6 months of follow-up clinics at Muhimbili National Hospital: neonatal; dermatology; ear, nose, and throat; and physiotherapy units. She died at 7 months of age. Conclusion Despite limited resources, the early survival of these babies can be improved by providing basic care.

Introduction. Autosomal recessive congenital ichthyosis is a heterogeneous group of congenital disorders characterised by abnormal keratinisation and exfoliation of the epidermis. Some patients with this condition are born encased in collodion membrane. Objective. The case of the autosomal recessive congenital ichthyosis subtype, a self-healing collodion baby, which is an uncommon phenotype of this disorder, accounting for approximately 10% of patients, is described. Case report. A 3-day-old newborn showed features of a collodion baby at birth. Physical examination revealed diffuse yellow-wax skin lesions of a scale-like character on the skin of the whole body with numerous cracks of the stratum corneum, upper and lower eyelids eversion, lip curl, deformation of the auricles, and subtle flattening of the nose. Skin changes gradually disappeared starting from the 5th day of life. Conclusions. This rare case of the autosomal recessive congenital ichthyosis subtype, despite a significant regression of skin lesions, requires constant observation and dermatological supervision. There is a high probability that symptoms of ichthyosis of variable intensity will remain permanently. [ABSTRACT FROM AUTHOR]

Copyright of Pädiatrie & Pädologie is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Collodion baby (CB) is a specific phenotype of a genodermatosis, in which a newborn is born with parchment-like membrane on the skin. Clinical manifestations of the individual types of ichtyoses that develop from CB change with patient's age. The diagnostic method of choice nowadays is molecular analysis, which also enables complex genetic counseling and genetic prevention. Patients should be reffered to specialized centers where laboratory facilities are available, and where multidisciplinary care provided by neonatologists, pediatricians, dermatologists and other specialists is possible. [ABSTRACT FROM AUTHOR]

Congenital ichthyosis (CI) constitutes a large etiologically and phenotypically heterogeneous group of infrequent genetic cornification disorders marked by impaired epidermal barrier function, with highly variable outcome and severity. In newborns with severe ichthyosis, the consequence of this disrupted barrier can be particularly dangerous, at times life-threatening, with increased susceptibility to respiratory failure, infection, and dramatically increased metabolic demands due to increased epidermal turnover and transepidermal water loss. We report five cases of congenital ichthyosis, admitted in the last 4 years to our NICU. This article explores different neonatal presentations of ichthyoses, describes potential complications and causes of morbidity and mortality, and discusses management considerations relevant to the neonatal period. Case 1 and 2 are siblings suffering from Harlequin ichthyosis, successfully treated with acitretin with no significant side effects. Case 3 is a case of severe CI, called Netherton syndrome, with poor prognosis. Case 4 and 5 are an example of collodion babies. All cases required NICU admission for intensive skin care and hydration, and some requested respiratory support. Case three died due to necrotizing enterocolitis and sepsis. Although congenital ichthyosis is fairly rare, it is important for the neonatologist to be aware of this heterogeneous disorder, as the perinatal period represents a particularly critical stage. Severe forms of CI require admission to a NICU and a thoughtful interdisciplinary approach to improve prognosis and to successfully treat complications. An early oral retinoid therapy should be considered in Harlequin ichthyosis. [ABSTRACT FROM AUTHOR]

Autosomal recessive congenital ichthyosis (ARCI) belongs to a heterogeneous group of disorders of keratinization. To date, 10 genes have been identified to be causative for ARCI. NIPAL4 (Nipa‐Like Domain‐Containing 4) is the second most commonly mutated gene in ARCI. In this study, we present a large cohort of 101 families affected with ARCI carrying mutations in NIPAL4. We identified 16 novel mutations and increase the total number of pathogenic mutations in NIPAL4 to 34. Ultrastructural analysis of biopsies from six patients showed morphological abnormalities consistent with an ARCI EM type III. One patient with a homozygous splice site mutation, which leads to a loss of NIPAL4 mRNA, showed additional ultrastructural aberrations together with a more severe clinical phenotype. Our study gives insights into the frequency of mutations, a potential hot spot for mutations, and genotype–phenotype correlations. [ABSTRACT FROM AUTHOR]

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.

Background: Collodion baby is a rare condition (i.e., 1:300000 birth), which is referred to a neonate covered with a tight and shiny membrane desquamating within two weeks. This condition takes place as a result of the epidermal cornification disorder. Given the impairment of the skin barrier function, these neonates are at the risk of several complications, including hypernatremic dehydration, hypothermia, skin infections, fissures, conjunctivitis, sepsis, dehydration, and constrictive bands of the extremities resulting in vascular compromise and edema. This condition has a high mortality rate; accordingly, the majority of the collodion babies die within the first few weeks of birth due to the secondary complications depending on the type of mutations. Although the collodion membrane is a transient condition, it can lead to a number of complications in 45% of the newborns and result in 11% mortality rate in the first few weeks of the neonatal life. However, in the recent years, the mortality rates have been declined owing to the introduction of systemic retinoids to the clinical practice and the advanced care methods, which are used in the intensive care units. Harlequin ichthyosis has been associated with the mutation in the ABCA12 gene; therefore, genetic counseling and mutation screening of this gene should be considered.Case report: Herein, we reported a case of a collodion baby with favorable evolution, who developed hypernatremia and suffered from some complications having aroused from the condition.Conclusion: Infection prevention and supportive care of collodion babies mainly with incubator, serum therapy, and feeding support can be effective in preventing complications.

Abstract: Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare disorders of keratinization characterized by generalized abnormal scaling of the skin. Ten genes are currently known to be associated with ARCI: TGM1, ALOXE3, ALOX12B, NIPAL4 (ICHTHYIN), ABCA12, CYP4F22, PNPLA1, CERS3, SDR9C7, and SULT2B1. Over a period of 22 years, we have studied a large patient cohort from 770 families with a clinical diagnosis of ARCI. Since the first report that mutations in the gene CYP4F22 are causative for ARCI in 2006, we have identified 54 families with pathogenic mutations in CYP4F22 including 23 previously unreported mutations. In this report, we provide an up‐to‐date overview of all published and novel CYP4F22 mutations and point out possible mutation hot spots. We discuss the molecular and clinical findings, the genotype–phenotype correlations and consequences on genetic testing. [ABSTRACT FROM AUTHOR]

Gaucher disease is the most common lysosomal storage disorder due to glucosylceramidase enzyme deficiency. There are three subtypes of the disease. Neurological involvement accompanies visceral and haematological findings only in type II and type III Gaucher patients. Type II is the acute progressive neuronopathic form which is the most severe and rare subtype. Clinical findings are recognized prenatally or in the first months of life and followed by death within the first two years of age. Among our 81 Gaucher patients, we identified 4 (4,9%) type II patients in our metabolic centre. This rate is significantly higher than the rate reported in the literature (<1%). Three of the patients had novel mutations, one of them was a collodion baby and the other one was mistyped as type III due to its atypical presentation at the beginning and he was treated with ERT for 8 months. In this report, we present our type II Gaucher patients with three novel mutations and one perinatal lethal form with generalized ichthyosis which is a very rare disorder. Additionally, we would like to highlight the phenotypic heterogeneity not only between the subtypes, also even in the same type. [ABSTRACT FROM AUTHOR]

Collodion baby "CB" is an extremely rare dermatological condition. Approximately 1 in 100,000 births are identified as infants with CB syndrome, including stillbirths (Dyer et al., 2013). A cornified substance replaces the newborn's skin, giving the body a varnished or parchment-like appearance. Patient aged 30 years, third gesture, third pare, admitted for premature delivery of 8 months. After labor management, she gave birth 2 h after admission to the maternity ward of a living newborn female weighing 2400 g. The initial physical examination revealed large, thick scales all over the body. Examination of the head and neck revealed an abnormal parchment-like membrane covering the head and sparse hairs. Excessive scaling around the mouth gives a typical fish-like appearance. No other obvious abnormalities were observed. CB is an extremely rare dermatological condition. This is a disorder secondary to cornification. These children are generally born prematurely, and are not diagnosed until after birth. Due to the presence of a tight membrane, these babies develop numerous complications such as eclabium, ectropion, limited movement of the extremities and fingers. Treatment consists mainly of support, such as the use of intravenous fluids, incubators, tube feeding and emollients. The collodion baby is a newborn characterized by an altered skin barrier, exposing him or her to numerous complications. Fortunately, the mortality rate has fallen thanks to improved neonatal care. • Collodion baby is a rare congenital disorder with life-threatening complications. • A cornified substance replaces the newborn's skin, giving the body a varnished or parchment-like appearance • Early diagnosis is important to minimize the physiological and psychological impact of such anomalies on the mother and family. [ABSTRACT FROM AUTHOR]

Ichthyosis is a clinical skin cornification disorder characterized by hyperkeratosis. Lamellar ichthyosis is a rare form of ichthyosis (collodion baby), which is autosomal recessive. Diagnostic clinical findings can be confirmed with skin biopsy and genetic analysis. The principles of treatment are moistening the skin, prevention of dehydration, and use of keratolytic agents. Systemic retinoic acid (0.5-1 mg/kg/day) is reported to provide dramatic benefits in the treatment of lamellar ichthyosis and congenital ichthyosiform erythroderma. In this study, the efficiency of oral retinoic acid treatment is presented to show a dramatic improvement in five patients who were diagnosed as collodion babies and admitted to The Neonatal Intensive Care Unit after birth. None had other congenital problems. Only two patients were diagnosed as having sepsis. Hair loss was the only adverse effect of treatment in all five patients. With this series of collodion baby, we wanted to the draw the attention of physicians to the promising efficacy of retinoic acid. [ABSTRACT FROM AUTHOR]

Ichthyoses are disorders of cornification in which abnormal differentiation and desquamation of the epidermis result in a defective epidermal barrier. They can be inherited or acquired. Skin changes are clinically characterized by hyperkeratosis or scaling or both. In this series we present 2 cases of collodion baby and 3 cases of lamellar ichthyosis. [ABSTRACT FROM AUTHOR]

Self-improving collodion ichthyosis (SICI) is a relatively rare subtype of autosomal recessive congenital ichthyosis (ARCI) that is often characterized by a collodion baby (CB) phenotype at birth. A newborn girl, just 1 hour old, presented with taut, shiny, thick yellow crusts, like parchment, and scales on her trunk and upper limbs. The tightening effect had caused both upper eyelids to appear everted, and her lips and auricles were deformed. Based on whole-exome sequencing and examination of the clinical phenotype, the patient was diagnosed with ARCI. After admission, the exposed mucosa was covered with a sterile Vaseline gauze dressing, and she was placed in an incubator set to a temperature of 32°C with a humidity level of 75%. One week later, the parchment-like scales had begun to flake off, and at the age of 3 weeks, all bodily skin appeared normal. SICI was diagnosed. After discharge, the patient was followed up to 3 months of age, at which time her growth and development were comparable to those of her peers. Clinicians should consider SICI as a possible diagnosis when analyzing the prognosis of patients with CB. Reducing water loss and maintaining the electrolyte balance are particularly important for SICI treatment., Competing Interests: Declaration of conflicting interestsThe authors declare that there are no conflicts of interest.

Collodion baby is a severe form of congenital ichthyosis detected in neonatal period. It often has a characteristic clinical picture. When evolution is not fatal; it often causes dry Ichthyosis. Thanks to molecular biology techniques, prenatal diagnosis can be made since the 10-12 weeks of amenorrhea, allowing genetic counselling. Prognosis depends on several parameters, namely the degree of the initial manifestation, the duration of desquamation, as well as underlying Ichthyosis This rewiew of the literature which aims to clarify the diagnostic aspects and therapeutic treatment as well as the role of the antenatal diagnosis is based on a new observation of a collodion baby born at 34 weeks, of a parturient woman having an index case and of infant deaths occurring in the first day of life. [ABSTRACT FROM AUTHOR]

Autosomal recessive congenital ichthyosis (ARCI) represents a heterogeneous group of rare disorders of coz1rnification with 3 major subtypes: harlequin ichthyosis (HI), lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE). A 4th subtype has also been proposed: pleomorphic ichthyosis (PI), characterized by marked skin changes at birth and subsequently mild symptoms. In nationwide screenings of suspected cases of ARCI in Denmark and Sweden, we identified 132 patients (age range 0.1-86 years) classified as HI (n = 7), LI (n = 70), CIE (n = 17) and PI (n = 38). At birth, a collodion membrane or similar severe hyperkeratosis was reported in almost all patients with HI and LI, and in nearly half of patients with CIE and PI. Persistent ectropion was more common in HI (85%) and LI (57%), than in CIE (35%) and PI (5%). Anhidrosis was a frequent problem in all 4 groups (58-100%). A scoring (0-4) of ichthyosis/erythema past infancy showed widely different mean values in the subgroups: HI (3.2/3.1), LI (2.4/0.6), CIE (1.8/1.6), PI (1.1/0.3). Novel or recurrent mutations were found in 113 patients: TGM1 (n = 56), NIPAL4 (n = 15), ALOX12B (n = 15), ABCA12 (n = 8), ALOXE3 (n = 9), SLC27A4 (n = 5), CYP4F22 (n = 3), PNPLA1 (n = 1) and ABHD5 (n = 1). In conclusion, by performing a deep phenotyping and gene screening, ARCI can be definitely diagnosed in 85% of cases in Scandinavia, with a prevalence of 1:100,000 and > 8 different aetiologies. [ABSTRACT FROM AUTHOR]

Congenital ichthyosis refers to various underlying genodermatoses that indicate prenatal epidermal abnormalities. Collodion babies are manifestations of rare congenital ichthyosis, comprising severe clinical complications that contribute to the risk of mortality. This case report presents the case of a full-term female neonate, delivered at 38 weeks of gestation, who exhibited features of a translucent collodion membrane over her entire body at birth. The mother reported fewer antenatal check-ups and a lack of obstetric ultrasonography during pregnancy. The baby later developed systemic complications, which were managed with intensive neonatal care. This case report attempts to address the uncommon occurrence of collodion babies, which can be managed with supportive care and diagnosed with a fair amount of certainty with invasive prenatal diagnostics., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Quazi et al.)

Collodion baby is a rare congenital disorder and a very intense disorder in which the baby suffers from several complications, such as trans-epidermal water loss. Only ∼270 cases of collodion babies have been reported in the literature since 1892. This disease may later develop one of a spectrum of diseases including lamellar ichthyosis, which the patient may had Congenital lamellar ichthyosis with ectropion, which was clinically distinguished by the collodion baby phenotype at birth., Case Presentation: The authors are reporting the first case in Syria, a 20-day-old white Syrian male newborn, vaginally delivered at 38 weeks of pregnancy, with normal conditions, and congenital lamellar ichthyosis was shown by physical examination, as parchment-like scales were covering the newborn's skin, which was starting to detach and showing the "collodion baby" appearance. Ophthalmologic examination revealed a bilateral ectropion of the upper eyelids with tarsal eversion. A treatment of Tobramycin 0.3% eye ointment was prescribed four times a day, with a viscotears liquid gel eye drops 4 times a day, and vaseline petroleum jelly to be applied three times daily. At 2-month follow-up, a significant improvement was noted., Conclusion: Ichthyosis have a wide range of disorders that involve the skin and have inherited and acquired forms. As a result, keratolytic and systemic retinoids can have significant benefits in restoring skin function., Competing Interests: Authors declare no conflicts of interest., (Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.)

Copyright of Der Hautarzt is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: Collodion baby is a rare condition (i.e., 1:300000 birth), which is referred to a neonate covered with a tight and shiny membrane desquamating within two weeks. This condition takes place as a result of the epidermal cornification disorder. Given the impairment of the skin barrier function, these neonates are at the risk of several complications, including hypernatremic dehydration, hypothermia, skin infections, fissures, conjunctivitis, sepsis, dehydration, and constrictive bands of the extremities resulting in vascular compromise and edema. This condition has a high mortality rate; accordingly, the majority of the collodion babies die within the first few weeks of birth due to the secondary complications depending on the type of mutations. Although the collodion membrane is a transient condition, it can lead to a number of complications in 45% of the newborns and result in 11% mortality rate in the first few weeks of the neonatal life. However, in the recent years, the mortality rates have been declined owing to the introduction of systemic retinoids to the clinical practice and the advanced care methods, which are used in the intensive care units. Harlequin ichthyosis has been associated with the mutation in the ABCA12 gene; therefore, genetic counseling and mutation screening of this gene should be considered. Case report: Herein, we reported a case of a collodion baby with favorable evolution, who developed hypernatremia and suffered from some complications having aroused from the condition. Conclusion: Infection prevention and supportive care of collodion babies mainly with incubator, serum therapy, and feeding support can be effective in preventing complications. [ABSTRACT FROM AUTHOR]

Background: Collodion membrane in the neonate may be the initial presentation of a number of different conditions. There is a lack of data correlating the extent of clinical involvement to the underlying disease and prognosis. Objective: We sought to identify features predictive of the final outcome and complications in a cohort of patients with collodion membrane, using a disease severity score. Methods: This was a retrospective cohort study of newborns with collodion membrane at a tertiary care institution over a period of 31 years. We designed and applied a 0- to 15-point severity score and correlated the results with the final diagnoses and complications. Data on demographics, membrane shedding, and treatment were collected. Results: We identified 29 cases. Congenital ichthyosiform erythroderma and lamellar ichthyosis were the most common final diagnoses with 7 of 29 cases (24%) each; 3 patients were given the diagnosis of a syndromic ichthyosis. The classic nonsyndromic ichthyoses had higher average score results (7.33) than the syndromic ichthyoses (2.0) and other presentations (4.0), (P = .0097). Patients with major complications had higher, but nonsignificant, average severity scores (P = .64). Limitations: The retrospective design and small number of patients with a syndromic ichthyosis are limitations. Conclusions: Prospective studies are required to validate the proposed disease severity score. [Copyright &y& Elsevier]

Objective: To determine the molecular basis of familial ichthyosis in three Omani families. Subjects and Methods: Nine patients from three consanguineous families, A, B, and C, were born with typical features of lamellar ichthyosis subtype including collodion membrane and maintained ectropion, and epidermal scaling through their childhood. The 4 patients from family B had more severe symptoms requiring neonatal critical care and subsequent regular treatment with emollients, eye lubricants, and low-dose acitretin. DNA was extracted from peripheral blood by standard methods. The samples were initially genotyped to screen known loci linked to recessive ichthyosis on chromosomes 2q33-32 (ABCA12), 14q11 (TGM1), and 19p12-q12 using commercially supplied polymorphic fluorescent microsatellite markers. TGM1 was analyzed by direct sequencing for disease-associated mutations. Results: Two known pathogenic mutations in TGM1 were detected: p.Gly278Arg in families A and B and p.Arg396His in family C. These two mutations were segregating in an autosomal recessive mode of inheritance. Conclusion: Two known pathogenic TGM1 mutations were detected in three large consanguineous Omani families with lamellar ichthyosis. This study confirmed the geographic distribution of known mutations to an apparently unrelated population. Copyright © 2013 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]