ABSTRACT
Objective:To investigate pathogenic genes and inheritance patterns in 3 consecutive collodion babies in a family.Methods:The proband was diagnosed as a collodion baby due to extensive dry and chapped skin all over the body at birth. Phenotypes of the proband's parents were normal, but their first and second children presented with dry and chapped skin at birth and died a few days after birth. DNA was extracted from peripheral blood samples of the patient and her parents for whole-exome capture sequencing, and candidate mutations were verified by Sanger sequencing.Results:Compound heterozygous mutations in the ALOX12B gene were identified in the infant, including a missense mutation c.1405 C>T (p.R469w) inherited from her father and a frameshift mutation c.68_69insC (p.L24fs) inherited from her mother.Conclusions:The infant was diagnosed with hereditary ichthyosis, which was inherited in an autosomal recessive manner. The missense mutation c.1405 C>T and frameshift mutation c.68_69insC in the ALOX12B gene may contribute to the clinical phenotype of this infant, and the frameshift mutation had not been reported in China or other countries.
ABSTRACT
Objective:To investigate the genetic etiology of a pedigree with autosomal recessive congenital ichthyosis.Methods:Whole-exome sequencing was performed in a collodion baby, and Sanger sequencing was conducted to verify gene mutations. The PolyPhen-2, PROVEAN and Mutation Taster softwares, as well as protein homology modeling methods, were used to predict effects of gene variants; real-time fluorescence-based quantitative PCR and Western blot analysis were performed to analyze the effect of mutations on allelic mRNA and protein expression.Results:Whole-exome sequencing and Sanger sequencing confirmed a mutation c.919C>T (p.Arg307Trp) in exon 6 and a mutation c.1019G>A (p.Gly340Glu) in exon 7 of the TGM1 gene in the infant, which were inherited from his mother and father respectively. Bioinformatics analysis suggested that both the two mutations were harmful to protein structures, which were further supported by protein homology modeling. In vitro experiments showed that there was no significant difference in the mRNA expression of the TGM1 gene between the 293T cells transfected with wild-type plasmids and those transfected with mutant plasmids containing the mutation c.919C>T or c.1019G>A ( t=1.97, 1.28, P=0.12, 0.27, respectively) , but the TGase1 protein expression significantly decreased in the 293T cells transfected with the mutant TGM1 plasmids. Conclusion:The mutations c.919C>T and c.1019G>A in the TGM1 gene may be the molecular genetic etiology of severe ichthyosis in the infant, and the missense amino acids encoded by the two mutations may affect the TGase1 protein function by destroying its structure.
ABSTRACT
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.
Subject(s)
Humans , Patient Care Team/organization & administration , Ichthyosis/genetics , Ichthyosis/diagnosis , Ichthyosis/therapy , Terminology as TopicABSTRACT
Introducción: El bebé colodión 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 deshidratación, pérdida 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 bebé colodión, con el fin de ayudar a la identificación más precoz de esta patología. Caso clínico: Recién nacido de 34 semanas, con membrana colodión, que ingresa en la unidad de cuidados intensivo con dificultad respiratoria severa. Se mantiene en una incubadora con humedad, aplicando emolientes y lubricación cutánea y oftalmológica. Se inició tratamiento antibiótico de amplio espectro. El quinto día de vida, comenzó con intolerancia a la alimentación, desarrollándose una enterocolitis fulminante que le ocasionó el fallecimiento. Conclusiones: La asociación con enterocolitis necrosante en un bebé colodión no ha sido descrita en la literatura, por lo que, ocasiona una demora diagnóstica y esto contribuye a una evolución fulminante que puede ocasionar la muerte. El tener presente esta infrecuente comorbilidad podrá favorecer su pesquisa para el manejo oportuno.
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 emollients 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. Conclusion: 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.
Subject(s)
Humans , Female , Infant, Newborn , Enterocolitis, Necrotizing/complications , Enterocolitis, Necrotizing/diagnosis , Ichthyosiform Erythroderma, Congenital/complications , Dehydration , Enterocolitis, Necrotizing/therapy , Fatal OutcomeABSTRACT
Neu-Laxova syndrome is a rare, lethal, autosomal recessive disorder characterized by intrauterine growth retardation, central nervous system anomalies, skin findings, such as ichthyosis, edema, collodion baby and harlequin fetus, facial dysmorphic features, limb anomalies and genital hypoplasia. Although it is generally a lethal condition, cases of such patients who lived beyond 6 months and 10 months of age have been reported. Here, we describe an 8-year-old boy who was born with collodion membrane, facial dysmorphic features, limb anomalies, genital hypoplasia and pachygyria. He had no major health problems over the course of 8 years of follow-up, except for mild mental/motor retardation, ichthyosis, facial dysmorphic features and limb anomalies. Based on these features, we suggest that because Neu-Laxova syndrome represents a heterogeneous phenotype, our case may be a milder variant of this syndrome or a new genetic entity.
Subject(s)
Child , Humans , Male , Abnormalities, Multiple , Brain Diseases , Central Nervous System , Collodion , Edema , Extremities , Fetal Growth Retardation , Follow-Up Studies , Ichthyosis , Ichthyosis, Lamellar , Limb Deformities, Congenital , Lissencephaly , Membranes , Microcephaly , Phenotype , SkinABSTRACT
Introducción. La ictiosis es una entidad clínica poco frecuente a nivel mundial (1:300,000 nacimientos). Sus formas clínicas en el neonato son bebé colodión y su manifestación más severa, feto arlequín o queratoma maligno. Clínicamente, la ictiosis se caracteriza principalmente por piel gruesa, dura y con hendiduras profundas. Las fisuras más prominentes se localizan sobre las áreas de flexión. Además, se observa ectropión en ambos ojos, deformidades en orejas y nariz; los labios se evierten provocando la apariencia de boca de pez. Caso clínico. Se reporta el caso de un bebé colodión, que por su vulnerabilidad tegumentaria se mantuvo bajo aislamiento estricto para evitar infecciones; sin embargo, hubo necesidad de aplicar antibiótico por secreción ocular purulenta causada por Staphylococcus aureus coagulasa negativa. El paciente evolucionó aceptablemente. Conclusiones. El bebé colodión ha disminuido su mortalidad gracias al cuidado multidisciplinario, por lo que su identificación y manejo deben ser oportunos.
Background. Ichtyosis is an infrequent clinical entity worldwide (1:300 000 births). When diagnosed in a newborn, we can identify two forms: collodion baby and its most severe form, harlequin fetus or maligna keratoma. In both cases, clinical manifestations are thick and hard skin with deep splits. The splits are more prominent in flexion areas. Moreover, we can observe ectropion in both eyes and deformities in the ears and nose, as well as inverted lips that resemble the mouth of a fish, among others signs. Case report. We report a case of a collodion baby who was kept in strict isolation to avoid any infection. However, due to purulent ocular secretions due to coagulase-negative Staphylococcus aureus, antibiotic treatment was indicated. The evolution of the patient was favorable. Conclusions. Mortality of the collodion baby has decreased as a result of multidisciplinary care and opportune diagnosis and management.
ABSTRACT
El termino bebé colodión define una rara dermatosis del recién nacido caracterizada por una gruesa membrana que cubre la superficie corporal y acuerda al celofán, provocando alteraciones dismorficas en el neonato. En la mayoría de los casos la lesión evoluciona hacia una ictiosis lamelar ó hacia síndromes más complejos que suelen presentar una piel ictiósica como uno de sus signos. Se estudian los signos y la evolución hasta la edad escolar de una niña colodión. Los síntomas aparecieron en el momento del nacimiento, a la exploración se destacaba una membrana rígida y gruesa que cubría todo el cuerpo, ectropión y aplanamiento de las orejas y la nariz, la apertura bucal estaba restringida, la evolución fue satisfactoria hacia una forma leve de ictiosis lamelar. Se presenta el caso por tratarse de una patología infrecuente y rara en nuestro medio.
He finishes collodión baby it defines a strange dermatosis of the newly born one characterized by a thick membrane that covers the corporal surface and he/she agrees to the cellophane, causing alterations dismorfics in the neonato. In most of the cases the lesion evolves toward an lamellar ictiosis or toward more complex syndromes that usually present a ictiósic skin like one of its signs. The signs and the evolution are studied until the school age of a girl colodión. The symptoms appeared in the moment of the birth, to the exploration he/she stood out a rigid and thick membrane that covered the whole body, ectropión and leveling of the ears and the nose, the buccal opening it was restricted, the evolution was satisfactory toward a light form of ictiosis lamelar. The case is presented to be an uncommon and strange pathology in our means.
ABSTRACT
We report herein two cases of collodion baby in dizygotic twins, one boy and one girl. The babies were presented with general involvement of enclosement in a constricting parchment-like or collodion-like membrane, followed by its shedding and revealing red skin underneath. Histologically, compact dense hyperkeratosis and mild cellular infilterate in the upper dermis were seen, without parakeratosis or prominent granular layer. The babies markedly improved about 1 month later. The mild ichthyotic skin remained in the lower legs.
Subject(s)
Female , Humans , Male , Collodion , Dermis , Leg , Membranes , Parakeratosis , Skin , Twins, DizygoticABSTRACT
A collodion baby is born with a tough, inelastic parchment-like membrane covering the whole body surface. As the meinbrane fissures and peels, a more characteristic ichthyosiform change is evident beneath the collodion membrane. Uncommonly, normal skin is found under it. We herein present two cases af collodion baby, which were confirmed as a sporadic case of lamellar ichthyosis and a case of lamellar exfoliation of the newborn, respectively, after long-term clinical observation. It is necessary that detailed genetical and molecular biological studies should be perforrned in order to elucidate the fur:damental, molecular changes that cause these dramatic cutaneous changes.
Subject(s)
Humans , Infant, Newborn , Collodion , Ichthyosis, Lamellar , Membranes , SkinABSTRACT
This is a rare typical case of collodion baby. The patient is a one-day-old newborn male who has been suffering from the tightly collodion or parchment-like coverings over the entire skin surface with ectropion, eclabion, fixed semiflexion position of the limbs and fissures on the flexual area. The family history was noncontributory with no consanguinity. This patient was desquamated from collodion-like membrane and returned to normal looking skin from the seventh day of life to one month. Diagnosis of collodion baby was established by clinical features and histopathological study. A brief review of literature was made.
Subject(s)
Humans , Infant, Newborn , Male , Collodion , Consanguinity , Diagnosis , Ectropion , Extremities , Membranes , SkinABSTRACT
The Harlequin fetus-ichthyosis fetalis-is known to be rare. Recently, we experienced a case of Harlequin fetus in stillborn infant due to autosomal recessive inheritance likely. A review of literature was done briefly.