Search

The broad differential diagnosis of neonatal erythroderma often poses a diagnostic challenge. Mortality of neonatal erythroderma is high due to complications of the erythroderma itself and the occasionally severe and life-threatening underlying disease. Early correct recognition of the underlying cause leads to better treatment and prognosis. Currently, neonatal erythroderma is approached on a case-by-case basis. The purpose of this scoping review was to develop a diagnostic approach in neonatal erythroderma. After a systematic literature search in Embase (January 1990 - May 2020, 74 cases of neonatal erythroderma were identified, and 50+ diagnoses could be extracted. Main causes were the ichthyoses (40%) and primary immunodeficiencies (35%). Congenital erythroderma was present in 64% (47/74) of the cases, predominantly with congenital ichthyosis (11/11; 100%), Netherton syndrome (12/14, 86%) and Omenn syndrome (11/23, 48%). Time until diagnosis ranged from 102 days to 116 days for cases of non-congenital erythroderma and congenital erythroderma respectively. Among the 74 identified cases a total of 17 patients (23%) died within a mean of 158 days and were related to Omenn syndrome (35%), graft-versus-host disease (67%) and Netherton syndrome (18%). Disease history and physical examination are summarized in this paper. Age of onset and a collodion membrane can help to narrow the differential diagnoses. Investigations of blood, histology, hair analysis, genetic analysis and clinical imaging are summarized and discussed. A standard blood investigation is proposed, and the need for skin biopsies with lympho-epithelial Kazal-type related Inhibitor staining is highlighted. Overall, this review shows that diagnostic procedures narrow the differential diagnosis in neonatal erythroderma. A 6-step flowchart for the diagnostic approach for neonatal erythroderma during the first month of life is proposed. The approach was made with the support of expert leaders from international multidisciplinary collaborations in the European Reference Network Skin-subthematic group Ichthyosis.

The broad differential diagnosis of neonatal erythroderma often poses a diagnostic challenge. Mortality of neonatal erythroderma is high due to complications of the erythroderma itself and the occasionally severe and life-threatening underlying disease. Early correct recognition of the underlying cause leads to better treatment and prognosis. Currently, neonatal erythroderma is approached on a case-by-case basis. The purpose of this scoping review was to develop a diagnostic approach in neonatal erythroderma. After a systematic literature search in Embase (January 1990 - May 2020, 74 cases of neonatal erythroderma were identified, and 50+ diagnoses could be extracted. Main causes were the ichthyoses (40%) and primary immunodeficiencies (35%). Congenital erythroderma was present in 64% (47/74) of the cases, predominantly with congenital ichthyosis (11/11; 100%), Netherton syndrome (12/14, 86%) and Omenn syndrome (11/23, 48%). Time until diagnosis ranged from 102 days to 116 days for cases of non-congenital erythroderma and congenital erythroderma respectively. Among the 74 identified cases a total of 17 patients (23%) died within a mean of 158 days and were related to Omenn syndrome (35%), graft-versus-host disease (67%) and Netherton syndrome (18%). Disease history and physical examination are summarized in this paper. Age of onset and a collodion membrane can help to narrow the differential diagnoses. Investigations of blood, histology, hair analysis, genetic analysis and clinical imaging are summarized and discussed. A standard blood investigation is proposed, and the need for skin biopsies with lympho-epithelial Kazal-type related Inhibitor staining is highlighted. Overall, this review shows that diagnostic procedures narrow the differential diagnosis in neonatal erythroderma. A 6-step flowchart for the diagnostic approach for neonatal erythroderma during the first month of life is proposed. The approach was made with the support of expert leaders from international multidisciplinary collaborations in the European Reference Network Skin-subthematic group Ichthyosis.

The broad differential diagnosis of neonatal erythroderma often poses a diagnostic challenge. Mortality of neonatal erythroderma is high due to complications of the erythroderma itself and the occasionally severe and life-threatening underlying disease. Early correct recognition of the underlying cause leads to better treatment and prognosis. Currently, neonatal erythroderma is approached on a case-by-case basis. The purpose of this scoping review was to develop a diagnostic approach in neonatal erythroderma. After a systematic literature search in Embase (January 1990 - May 2020, 74 cases of neonatal erythroderma were identified, and 50+ diagnoses could be extracted. Main causes were the ichthyoses (40%) and primary immunodeficiencies (35%). Congenital erythroderma was present in 64% (47/74) of the cases, predominantly with congenital ichthyosis (11/11; 100%), Netherton syndrome (12/14, 86%) and Omenn syndrome (11/23, 48%). Time until diagnosis ranged from 102 days to 116 days for cases of non-congenital erythroderma and congenital erythroderma respectively. Among the 74 identified cases a total of 17 patients (23%) died within a mean of 158 days and were related to Omenn syndrome (35%), graft-versus-host disease (67%) and Netherton syndrome (18%). Disease history and physical examination are summarized in this paper. Age of onset and a collodion membrane can help to narrow the differential diagnoses. Investigations of blood, histology, hair analysis, genetic analysis and clinical imaging are summarized and discussed. A standard blood investigation is proposed, and the need for skin biopsies with lympho-epithelial Kazal-type related Inhibitor staining is highlighted. Overall, this review shows that diagnostic procedures narrow the differential diagnosis in neonatal erythroderma. A 6-step flowchart for the diagnostic approach for neonatal erythroderma during the first month of life is proposed. The approach was made with the support of expert leaders from international multidisciplinary collaborations in the European Reference Network Skin-subthematic group Ichthyosis.

The broad differential diagnosis of neonatal erythroderma often poses a diagnostic challenge. Mortality of neonatal erythroderma is high due to complications of the erythroderma itself and the occasionally severe and life-threatening underlying disease. Early correct recognition of the underlying cause leads to better treatment and prognosis. Currently, neonatal erythroderma is approached on a case-by-case basis. The purpose of this scoping review was to develop a diagnostic approach in neonatal erythroderma. After a systematic literature search in Embase (January 1990 - May 2020, 74 cases of neonatal erythroderma were identified, and 50+ diagnoses could be extracted. Main causes were the ichthyoses (40%) and primary immunodeficiencies (35%). Congenital erythroderma was present in 64% (47/74) of the cases, predominantly with congenital ichthyosis (11/11; 100%), Netherton syndrome (12/14, 86%) and Omenn syndrome (11/23, 48%). Time until diagnosis ranged from 102 days to 116 days for cases of non-congenital erythroderma and congenital erythroderma respectively. Among the 74 identified cases a total of 17 patients (23%) died within a mean of 158 days and were related to Omenn syndrome (35%), graft-versus-host disease (67%) and Netherton syndrome (18%). Disease history and physical examination are summarized in this paper. Age of onset and a collodion membrane can help to narrow the differential diagnoses. Investigations of blood, histology, hair analysis, genetic analysis and clinical imaging are summarized and discussed. A standard blood investigation is proposed, and the need for skin biopsies with lympho-epithelial Kazal-type related Inhibitor staining is highlighted. Overall, this review shows that diagnostic procedures narrow the differential diagnosis in neonatal erythroderma. A 6-step flowchart for the diagnostic approach for neonatal erythroderma during the first month of life is proposed. The approach was made with the support of expert leaders from international multidisciplinary collaborations in the European Reference Network Skin-subthematic group Ichthyosis.

Lamellar ichthyosis or non-bullous congenital ichthyosis is an inherited autosomal recessive genodermatosis with a prevalence of 1 in 300,000 live births. The affected child is born with a tight, clear sheath covering their skin called a collodion membrane, that usually dries and peels off during the first few weeks of life, and then it becomes obvious that affected babies have scaly skin, and eyelids and lips that are turned outward. Infants with lamellar ichthyosis may develop infections, an excessive loss of fluids (dehydration), respiratory problems and even death within the first few days to weeks of life. Although the cause of this disorder is unknown, in some cases mutations in the Transglutaminase-1 (TGM1) gene are held accountable. We present to you a case of a term male baby born to a 31-year-old primigravid mother, with yellowish brown hard scales covering the whole body, but mostly the head, trunk, palm and soles with abnormally formed fingernails and toenails (nail dystrophy). The baby was examined for any other abnormalities. Skin biopsy showed epidermal hyperkeratosis and preservation of granular layer, confirming the diagnosis. The baby was treated in humidified environment with intravenous fluids and prophylactic antibiotics. Emollient was applied to the whole body. Rarity of such a case requires early and prompt diagnosis by clinicians, paying attention to skin care and hydration status of the baby, also mindful of any respiratory complications that may occur to prevent morbidity and mortality occurring from this condition.

The term ‘Collodion baby’ is used for the new-borns who are born in a parchment like membrane which is shiny, taut, waxy and appears like an extra layer of skin that has a collodion-like quality covering the whole body. It is not a specific diagnosis or disorder but rather a descriptive term. It is found in some forms of congenital ichthyosis. This membrane is shed around 2 weeks from birth. On shedding of membrane dry rough scaly skin like that of fish is visible. Other findings seen in our cases include ectropion and flattening of the nasal bridge. Neonates require careful monitoring and appropriate supportive treatment to decrease morbidity and mortality related to the disorder. We report here three rare cases of collodion baby with congenital ectropion. Keywords: Collodion baby, Lamellar ichthyosis, Ectropion.

The aim of my clinical image is to recall this rare dermatological condition and to highlight instructions to follow in treatment and proper management of the complications that can arise.

Elongation of Very Long Chain Fatty Acid-4 (ELOVL4) is a fatty acid elongase responsible for very long-chain fatty acid biosynthesis in the brain, retina, and skin. Heterozygous mutations in ELOVL4 gene cause Stargardt-like macular dystrophy and spinocerebellar ataxia type-34, while different homozygous mutations have been associated with ichthyosis, spastic quadriplegia, and mental retardation syndrome in three kindred. We report the first two Italian children affected with neuro-ichthyosis due to the previously undescribed ELOVL4 homozygous frameshift variant c.435dupT (p.Ile146TyrfsTer29), and compound heterozygous variants c.208C>T (p.Arg70Ter) and c.487T>C (p.Cys163Arg), respectively. Both patients were born with collodion membrane followed by development of diffuse mild hyperkeratosis and scaling, localized erythema, and palmoplantar keratoderma. One infant displayed mild facial dysmorphism. They suffered from failure to thrive, and severe gastro-esophageal reflux with pulmonary aspiration. The patients presented axial hypotonia, hypertonia of limbs, and absent head control with poor eye contact from infancy. Visual evoked potentials showed markedly increased latency and poor morphological definition, indicative of alteration of the retro-retinal visual pathways in both patients. Ultrastructural skin examination revealed abnormalities of lamellar bodies with altered release in the epidermal granular and horny layer intracellular spaces. Our findings contribute to expanding the phenotypic and genotypic features of ELOVL4-related neuro-ichthyosis.

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. Electronic supplementary material The online version of this article (10.1186/s13256-018-1912-8) contains supplementary material, which is available to authorized users.

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.

Collodion baby is a transient condition in newborns where they are covered in a taut, shiny membrane. Later, it can evolve into any form of autosomal recessive congenital ichthyosis or other ichthyosiform syndromes. Retinoids are one of the most effective therapeutic modalities for ichthyosis and have been found to be safe in neonates. Hence, early and judicious use of retinoids can significantly improve the quality of life in severe ichthyosis. Herein, we report a case of congenital ichthyosis which showed an excellent response to acitretin therapy.

The paper describes 2 cases of congenital lamellar ichthyosis debuting state «collodion baby». Presented features of clinical manifestations: in newborn all skin is covered with a thin dry yellowish-brown film, resembling collodion, also ectropion and eklabium are frequently marked. After some time cracks appear, the film turns into large squamas, which exfoliate completely in 1.5 months, and so the clinical picture of congenital ichthyosis is formed. Timely initiated therapy, including external moisturizers and lipid-replenishing funds, contributed to the rapid relief of clinical symptoms and infectious-inflammatory process.

Autosomal recessive congenital ichthyosis is a heterogeneous group of congenital disorders characterized by aberrant skin cornification and diffuse skin scaling. Some patients with this condition are born encased in a collodion membrane which is later shed, revealing the underlying skin disorder. Self-healing collodion baby (SHCB) is a less common phenotype of this disorder, accounting for about 10% of the patients, in which the membrane peels after several weeks, leaving no underlying skin aberration. Here, we report and discuss the diagnosis and management of an infant with SHCB in Vietnam due to compound heterozygous pathogenic mutations in TGM1.

Collodion baby is a rare condition in which the baby is born surrounded by membranes called collodion membranes. The evolution of these membranes is towards cracking and peeling. Sometimes, retraction leads to hypoperfusion or ischemia (especially of fingers and toes). In case of acute ischemia, surgery is necessary. We report the case of a newborn in which surgery was necessary to free both fingers and toes from constrictive bands responsible for ischemia. In the absence of surgery, the constrictive bands can lead to amputation (pseudoainhum). The purpose of this case report is to expose the management and the role of an orthopaedic surgeon in the treatment of a collodion baby.

Collodion baby and harlequin fetus are two clinical entities that have characteristic appearances that mark their diagnosis. Yet, this is only the beginning of unraveling the congenital ichthyosiform dermatosis causing it, as they are mere phenotypic forms, not disease entities. Autosomal recessive ichthyosiform diseases are responsible for a majority of collodion babies. Both syndromic and nonsyndromic ichthyosis disorders cause collodion in babies; thus, these babies need to be thoroughly evaluated during hospital stay and during the follow-up period as well. The course of a collodion baby can range from self-healing to significant morbidity. It is more worse in the harlequin fetus. Neonates with both conditions need neonatal intensive care unit hospitalization. The collodion membrane gradually sheds in the majority, revealing the ichthyosis in time. Skin barrier maintenance is extremely important, as fragility of the skin leads to a sequelae of complications. Otherwise, treatment modalities depend on general care and temperature regulation, and retinoids have shown promising results. Both conditions are described, and the approach needed in evaluation of the collodion baby is highlighted.

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

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.

Autosomal recessive congenital ichthyosis (ARCI) represents a heterogeneous group of rare disorders of cornification 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/ery-thema 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.

The term Congenital Lamellar Ichthyosis is used for newborns in whom all the body surface is covered by thick skin sheets , so called “collodion membrane”. Ichthyosis is an infrequent clinical entity worldwide (1 : 300 , 000 births). The collodion membrane is the result of an epidermal developmental dysfunction. The collodion membrane is composed of thick skin sheets which resemble translucent , tight parchment paper. In almost all of the collodion membrane cases an autosomal recessive ichthyosiform disease is implicated. Especially , in cases of lamellar ichthyosis , congenital ichthyosiform erythroderma and harlequin ichthyosis frequent association with collodion baby formation has been well documented. Clinically , the collodion babies may encounter dehydration , electrolyt e imbalance , temperature imbalance and increases risk of sepsis because of relatively severe skin damage. Therefore , morbidity and mortality rates are fairly high in these cases. Conclusively , these newborns should be monitored carefully in intensive care units and is difficult to diagnose in antenatal period.

WOS: 000437396300022, PubMed ID: 29656334, 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.

Self-healing collodion baby is a well-established subtype of this condition. We examined a male newborn, who was covered by a collodion membrane. The shed membrane was examined with scanning electron microscopy. The outer surface showed a very compact keratin without the normal elimination of corneocytes. The lateral view of the specimen revealed a very thick, horny layer. The inner surface showed the structure of lower corneocytes with polygonal contour. With higher magnifications villous projections were seen in the cell membrane.

Colloidon 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 rare case of collodion baby in whom, after collodion membrane peeled-off, the skin retained normal appearance.

Collodion baby is a rare form of congenital ichthyosis in which the entire body is covered by a parchment-like membrane. These neonates are at the risk of dehydration, sepsis, electrolyte disturbances, and temperature instability. It is inherited in autosomal recessive manner. We report a case of Collodion baby, born of a consanguineous marriage. Here, we present a short review of this condition and the various methods available for the prenatal diagnosis. A literature search was done using PubMed, Medline, and Google Scholar databases using the mesh terms “Ichthyosis”, “collodion baby”, “collodion membrane”, “Congenital ichthyosiform erythroderma”, and “Lamellar ichthyosis”.

Congenital bilateral upper eyelids eversion is rare clinical condition. However it is known to be associated with collodion baby, Down syndrome and children of black race. This condition responds well to early active conservative management. We reported a case of congenital bilateral upper eyelids eversion in a collodion neonate delivered by 21 year old lady at home through a spontaneous vaginal delivery. This case was successful managed with lid reposition, topical antibiotic and eye patching.

Fulminant necrotizing enterocolitis in a collodion baby. A case report Introduction: Collodion baby is a rare neonatal ichthyosis. The leathery, hard and yellow skin that covers the body is an ineffective barrier that predisposes to dehydration, heat loss and infections. A better management of these patients has been shown to increase survival, but the comorbidity requires strict and cautious monitoring. Objective: To describe a case of fulminant enterocolitis in a collodion infant in order to help to identify early this pathology. Case report: A 34-week newborn with collodion membrane was admitted to the intensive care unit with severe respiratory distress. The baby was maintained in an incubator with humidity, applying emo-llients and skin and eye lubrication. Broad-spectrum antibiotic treatment was initiated. The patient presented feeding intolerance on the fifth day of life, developing a fulminant enterocolitis resulting in death. Conclu-sion: The necrotizing enterocolitis associated with a collodion baby has not been described in the literature, causing a delay in diagnosis and contributing to a fulminant course that can lead to death. Keeping in mind this rare comorbidity may facilitate a timely management.(Key words: Collodion baby, necrotizing enterocolitis, ichthyosis, dehydration).Rev Chil Pediatr 2013; 84 (4): 429-433RESUMENIntroduccion: El bebe colodion es una ictiosis neonatal muy poco frecuente. La piel apergaminada, amarilla y dura que recubre el cuerpo resulta ser una barrera ineficaz, que predispone a la deshidratacion, perdida de calor e infecciones. El mejor manejo de estos pacientes ha permitido aumentar su supervivencia, pero su comorbi-lidad requiere de un seguimiento estricto y cauteloso. Objetivo: Describir un caso de enterocolitis fulminante desarrollada en un bebe colodion, con el fin de ayudar a la identificacion mas precoz de esta patologia. Caso clinico: Recien nacido de 34 semanas, con membrana colodion, que ingresa en la unidad de cuidados intensivo con dificultad respiratoria severa. Se mantiene en una incubadora con humedad, aplicando emolientes y lu-bricacion cutanea y oftalmologica. Se inicio tratamiento antibiotico de amplio espectro. El quinto dia de vida

Le bebe collodion est une forme severe de l’ichtyose congenitale a revelation neonatale. Le tableau clinique est souvent caracteristique. L’evolution, quand elle n’est pas fatale, se fait le plus souvent vers l’ichtyose seche. Grâce aux techniques de biologie moleculaire, le diagnostic prenatal est rendu possible des la 10-12eme semaine d’amenorrhee, permettant un conseil genetique. Quant au pronostic de la maladie, il depend de plusieurs parametres, a savoir le degre de l’atteinte initiale, la duree de la desquamation, ainsi que l’ichtyose sous-jacente. A l’occasion d’une nouvelle observation d’un bebe collodion issu a 34 SA, d’une parturiente ayant un cas index, et a evolution fatale des le premier jour de vie; nous avons fait une revue de la litterature afin de preciser les aspects diagnostiques et therapeutiques ainsi que l’utilite du diagnostic antenatale.

Ichthyosisisaninfrequent clinicalentityworldwide(1:300,000births)thatproduces visible scales on all or a great part of the skin surface. The new classification of this weird dermatosis is divided into 36 groups and their subgroups depend on their frequency, heritage and extracutaneus manifestations. Among the autosomal recessive congenital ichthyosis, we can identify collodion baby, which describes a newborn, preterm most of the time, with a hard, tense, brilliant membrane covering the whole body. In this article we talk about the case of a collodion baby, preterm female newborn of 35 gestational weeks, attended at Hospital General del Sur, Choluteca, Honduras, whose mother had poor prenatal control, not performed by a physician, without obstetric ultrasound during pregnancy. At physical examination the new-born had a constrictive, tense membrane,similar to an oily parchment or collodion that covered the entire body surface,she was given the initial optimum management, but due to lack ofservice in the area of pediatric dermatology, neonatology and genetics, the decision to transfer the newborn to a hospital with a higher level of care was made. In Honduras this case would be the second reported in the country and the first in the southern region of the country.

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.

Mendelian disorders of cornification (ichthyosis; MeDOC) often present in the neonatal period with little warning to providers or parents. This report reviews the majority of ichthyoses with congenital findings. The neonatal presentation of many MeDOC often differs from the later phenotype because of the changes in the skin that occur with transition from an intrauterine to extrauterine environment. While differentiation of ichthyosis subtypes in the neonatal period is difficult, there are certain phenotypic groups within which these neonates fall, recognition of which can guide initial work up and treatment. For this report, these are categorized as: exuberant vernix; collodion baby/harlequin ichthyosis (HI); ichthyosiform erythroderma; blistering; and normal skin/xerosis phenotypes.

Introduction: Lamellar ichthyosis (collodion baby) is a cornification disorder classified under the category of autosomal recessive congenital ichthyosis and characterized by hyperkeratosis. Early-stage retinoid treatment has been shown to improve survival in these patients. In this article, a lamellar ichthyosis case is presented of an infant who had the symptoms at birth and was treated successfully with acitretin. Case Presentation: A term newborn infant presented after delivery. Physical examination showed that the skin on her outer mouth, neck, axillae, and inguinal fold areas had collodion membranes and peelings. On the third day of life, the skin all over her body became dry and seemed similar to parchment paper, with peeling in some areas, as well as ectropion and eclabium development. After her daily bath, liquid Vaseline was applied all over her body, but it did not provide enough benefits. The infant was started on acitretin treatment. On the 14th day of treatment, the skin appeared nearly normal. On the 28th day of life, the infant was discharged. Conclusions: Early oral retinoid treatment facilitates increased quality of life improves survival rates for ichthyosis patients.

Las ictiosis hereditarias son un grupo de trastornos genéticos de la cornificación, que se caracterizan por presentar hiperqueratosis y/o descamación. La nueva clasificación identifica 36 tipos de ictiosis, las cuales se subdividen según su frecuencia, patrón de herencia y compromiso extracutáneo. El diagnóstico se basa principalmente en las características clínicas, ya que los estudios genéticos no se encuentran disponibles en nuestro medio. El tratamiento es sintomático y su manejo debe ser realizado por un equipo multidisciplinario. En este artículo se revisan los aspectos diagnósticos y terapéuticos de los distintos tipos de ictiosis, considerando la nomenclatura y modificaciones expuestas en la nueva clasificación. Hereditary ichthyoses are a group of genetic disorders of cornification, which are characterised by hyperkeratosis and scaling. The new classification identifies 36 types of ichthyosis, which are subdivided according to their frequency, pattern of inheritance and extracutaneous involvement. The diagnosis is mainly based on clinical features, since genetic studies are not available in our setting. Treatment is symptomatic and management should be performed by a multidisciplinary team. In this article, the diagnostic and therapeutic aspects of different types of ichthyosis are reviewed, taking into account the nomenclature and modifications presented in the new classification.

Collodion baby is an uncommon clinical presentation of several genetic conditions, primarily disorders of cornification. The severely compromised epidermal barrier presents the greatest challenge during the newborn period and advances in neonatal care have significantly improved the prognosis. This review summarizes the clinical characteristics, complications, outcomes, and differential diagnosis of the collodion baby. A practical approach to management based on the literature and clinical experience is presented.

DOI: http://dx.doi.org/10.3329/jdmc.v20i2.10553 J. Dhaka Med. Coll. 2011; 20(2): 213-217

Collodion baby is a rare congenital disorder of skin characterized by the presence of extra covering of tough film like membrane which breaks on stretching leading to fissure formation. This condition makes the new-born prone to dehydration, electrolyte imbalance, sepsis and temperature instability leading to frequent complications and high mortality. Here, we present a similar new-born baby born with this condition and presented with severe asphyxia, shock and respiratory failure at birth which was successfully managed in a low resource setting with interdepartmental co-ordination and without the above-mentioned complications.

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 thermoregulation, 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. Keywords: Collodion baby, Congenital ichthyosis , hydrocephalus, newborn, Sagamu

Resume Introduction La reevaluation d’une observation publiee anterieurement permet d’en corriger le diagnostic : un aspect neonatal de bebe collodion avec dystrophie pilaire traduit une trichothiodystrophie et non un syndrome de Netherton. En dehors de cette observation publiee de facon erronee, aucune autre publication sur le syndrome de Netherton ne mentionnait cette situation neonatale de bebe collodion. On peut affirmer que le syndrome de Netherton ne commence jamais par un etat de bebe collodion. Observation Le cas reetudie concernait une fille atteinte d’un syndrome de bebe collodion avec une dystrophie pilaire. A 2 ans, le diagnostic inexact de syndrome de Netherton etait porte bien que la dystrophie pilaire comportait une trichorrhexie noueuse et que l’ichtyose etait de type vulgaire. A 8 ans, 13 ans et 17 ans, le diagnostic de trichothiodystrophie etait affirme sur la presence de cheveux tigres en lumiere polarisee associee a une diminution de la cystine capillaire qui representait seulement 51 p. 100 du taux normal. Le phenotype realise comportait une ichtyose, une dystrophie pilaire, une diminution du quotient intellectuel, et une croissance limite, a -2 deviations standard, alors que les parents etaient grands. Il n’y avait pas de photosensibilite. Discussion L’etat de bebe collodion inaugure de facon inconstante une trichothiodystrophie. Une revue de 72 articles comportant la description clinique des signes de debut de la trichothiodystrophie permet de rapporter 22 fois l’etat de bebe collodion a une trichothiodystrophie. Le phenotype de bebe collodion est d’intensite moderee avec des dysmorphies faciales absentes ou mineures. C’est seulement l’examen microscopique des cheveux qui oriente vers une trichothiodystrophie. L’examen microscopique du cheveu avec examen en lumiere polarisee est indispensable pour etablir le diagnostic etiologique de bebe collodion. Un etat de bebe collodion n’inaugure jamais un syndrome de Netherton. Il peut realiser le mode de debut inconstant d’une trichothiodystrophie.

We report a rare case of myelodysplastic syndrome that presented early as amegakaryocytic thrombocytopenia in a collodion baby, which is a rare congenital disorder characterized by thick, taut membrane resembling oiled parchment or collodion, which is subsequently shed. To our knowledge, this is the first reported case of a collodion baby who presented with amegakaryocytic thrombocytopenia and who has a significant family history of the same condition. We document the rarity of this possible association and also the need for further study to establish whether a causal relationship exists.

A term female neonate was delivered by LSCS to a primigravida mother with the parents being non-consanguineous. The infant had a birth weight of 2.85 kg (appropriate for gestational age), with length and head circumference being 51cm and 32cm, respectively. On examination the vitals of the neonate was normal and the Apgar score was normal 6/9/9 at 1, 5, and 10 minutes respectively. A detailed physical examination showed broad thick scales all over the body with predominance over the head, chest, abdomen and arms. On head and neck examination there is presence of abnormal parchment like membrane covering the head and the hairs are sparse. There was associated ectropion and eclabium too. Due to excess of scales around the mouth gave the typical fish-like appearance. The newborn had generalized erythema and oedema over the body [Table/Fig-1]. No other associated obvious anomalies were seen. Thorough systemic examination was carried out which revealed no abnormalities. The family history was taken and pedigree analysis was done. There was no history of dermatological-related disorder or any other genetic disease. There was no history of consanguinity. During pregnancy there is no history of maternal complications or any drug exposure. The neonate was admitted in NICU and managed with adequate humidification in an incubator. The dermatological opinion was taken and proper monitoring of body temperature and adequate fluid and electrolyte replacement was done. Tube feeding was done at age of 1 day. As advised by the dermatologist topical emollients were regularly applied. Artificial tears were applied to prevent drying of eyes. The infant was closely monitored for any sepsis like condition in the form of off color, shock or delayed perfusion. The baby was then referred to a tertiary care hospital for further management. However, the neonate was later lost to follow-up and so we were unable to ascertain whether the neonate has any kind of genetic mutation. As we know that TGM1 gene mutation is the commonest cause of Collodion baby and it could not be ascertain whether the infant had Lamellar icthyosis Autosomal Recessive (AR) type or Non Bullous Congenital Icthyosiform Erythroderma (NBCIE). The written informed consent was taken from parents for case reporting and image publication. [Table/Fig-1]: Figure showing generalized erythema and oedema over the body.