scholarly journals Collodion baby-congenital ichthyosis: clinical review

2019 ◽  
Vol 6 (6) ◽  
pp. 2746
Author(s):  
Rahul Choudhary ◽  
Garima Sachdeva ◽  
Gaurav Katoch ◽  
Rakesh Kumar
Keyword(s):  
Autosomal Recessive ◽  
Short Review ◽  
Entire Body ◽  
Rare Form ◽  
Congenital Ichthyosis ◽  
Electrolyte Disturbances ◽  
Mesh Terms ◽  
Collodion Baby ◽  
Congenital Ichthyosiform Erythroderma ◽  
Autosomal Recessive Manner

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”.

scholarly journals Cushing disease in a patient with nonbullous congenital ichthyosiform erythroderma: lessons in avoiding glucocorticoids in ichthyosis

2019 ◽  
Vol 32 (8) ◽  
pp. 911-914
Author(s):  
Iris R. Hartley ◽  
Julia Costa Beber Nunes ◽  
Maya Lodish ◽  
Constantine A. Stratakis
Keyword(s):  
Pituitary Adenoma ◽  
Skin Disease ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Unique Case ◽  
Cushing Disease ◽  
Congenital Ichthyosis ◽  
Congenital Ichthyosiform Erythroderma ◽  
Transsphenoidal Resection

Abstract Nonbullous congenital ichthyosis erythroderma (CIE) is an autosomal recessive disorder of ineffective keratinization. We present a unique case of a 16-year-old female with CIE who developed Cushing disease (CD) at age 13 with concomitant worsening of her skin disease. After transsphenoidal resection of her pituitary adenoma, she had both resolution of her Cushing symptoms and significantly milder skin manifestations of her CIE. To the best of our knowledge, this is the first reported case of a patient with both CD and CIE, one that is important in demonstrating the role of glucocorticoids in this disorder.

Lamellar Ichthyosis

1981 ◽  
Vol 2 (7) ◽  
pp. 213-216
Author(s):  
Nils Olof Sandberg
Keyword(s):  
Autosomal Recessive ◽  
Skin Diseases ◽  
Recessive Trait ◽  
Autosomal Recessive Trait ◽  
Clinical Genetic ◽  
Lamellar Ichthyosis ◽  
Congenital Ichthyosis ◽  
Healthy Pregnancy ◽  
Collodion Baby

Congenital ichthyoses represent a heterogeneous group of rare skin diseases. The disorders are heritable and have in common a varying degree of hyperkeratosis. During the years there has been much confusion regarding the classification of the ichthyoses. Today we have a classification based on clinical, genetic, cellular, and kinetic observations (Table). 1,2 Most patients fit into one of the four major types of ichthyoses. Beside those major types, congenital ichthyosis may be seen as part of several uncommon syndromes. The most often seen congenital ichthyosis is the lamellartype which is inherited as an autosomal recessive trait.3 Lamellar ichthyosis was first described by Seeligmann under the title of "epidermal desquamation of the newborn" in 1841.4 Lentz and Altman reviewed the literature in 1968 and found a total of 103 cases.5 CASE HISTORY A.S., a 2,720-gm infant was born at 37 weeks of gestation. His parents and a brother are healthy. Pregnancy and labor were uncomplicated. Apgar scores at one and five minutes were 10. At birth the infant was encased in a shiny collodion membrane. Because of the tight envelope his nose, ears, fingers, and toes were whitish, and the baby could hardly move. The lips and eyelids were everted. The diagnosis of collodion baby was made immediately (Figs 1 and 2).

Two Cases of Autosomal Recessive Congenital Ichthyosis due toCYP4F22Mutations: Expanding the Genotype of Self-Healing Collodion Baby

2015 ◽  
Vol 33 (2) ◽  
pp. e48-e51 ◽  
Author(s):  
Lucero Noguera-Morel ◽  
Marta Feito-Rodríguez ◽  
Paola Maldonado-Cid ◽  
Sixto García-Miñáur ◽  
Erik-Jan Kamsteeg ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Self Healing ◽  
Congenital Ichthyosis ◽  
Autosomal Recessive Congenital Ichthyosis ◽  
Collodion Baby

scholarly journals Management of a collodion baby – Our experience

2019 ◽  
Vol 1 ◽  
pp. 101-103
Author(s):  
S. Anjana ◽  
Kunjumani Sobhanakumari ◽  
Rony Mathew ◽  
Rani Mathew
Keyword(s):  
Quality Of Life ◽  
Autosomal Recessive ◽  
Transient Condition ◽  
Excellent Response ◽  
Therapeutic Modalities ◽  
Congenital Ichthyosis ◽  
Autosomal Recessive Congenital Ichthyosis ◽  
Collodion Baby

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.

Dwarfism in Tibetan Terrier dogs with an LHX3 mutation

2021 ◽  
pp. 104063872110075
Author(s):  
Tuddow Thaiwong ◽  
Sarah Corner ◽  
Stacey La Forge ◽  
Matti Kiupel
Keyword(s):  
Hair Loss ◽  
Autosomal Recessive ◽  
Early Death ◽  
Deletion Mutation ◽  
Recessive Trait ◽  
Autosomal Recessive Trait ◽  
German Shepherd ◽  
Hair Coat ◽  
Pituitary Dwarfism ◽  
Autosomal Recessive Manner

Canine pituitary dwarfism in German Shepherd and related dog breeds has been reported to be associated with a 7-bp deletion mutation in intron 5 of the LHX3 gene. This mutation is transmitted as an autosomal recessive trait that results in dwarf dogs with significantly smaller stature and abnormal haircoat, and potentially early death. Phenotypically, affected adult dogs are proportionally dwarfs. These dwarfs also have a soft, woolly puppy coat that fails to transition into the typical adult hair coat, and marked hair loss occurs in some dogs. We report a similar manifestation of dwarfism in Tibetan Terriers with the same LHX3 mutation. Dwarf Tibetan Terrier puppies were born physically normal but failed to gain weight or to grow at the same rate as their normal littermates. The 7-bp deletion mutation of the LHX3 gene was identified in both alleles of 3 Tibetan Terrier dwarfs from 3 litters, which were biologically related. All parents of these dogs are carriers, confirming transmission of dwarfism in an autosomal recessive manner. Recognition and detection of this mutation will help in guiding future breeding plans to eventually eliminate this trait from Tibetan Terriers.

scholarly journals Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype

Life ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 624
Author(s):  
Pálma Anker ◽  
Norbert Kiss ◽  
István Kocsis ◽  
Éva Czemmel ◽  
Krisztina Becker ◽  
...  
Keyword(s):  
Genetic Diseases ◽  
Severity Index ◽  
Severe Form ◽  
Heterozygous Mutation ◽  
Lipoxygenase Pathway ◽  
Severe Condition ◽  
Skin Changes ◽  
Congenital Ichthyosis ◽  
Autosomal Recessive Congenital Ichthyosis ◽  
Collodion Baby

Collodion baby is a congenital, transient phenotype encountered in approximately 70–90% of autosomal recessive congenital ichthyosis and is an important entity of neonatal erythroderma. The clinical outcome after this severe condition is variable. Genetic mutations of components of the epidermal lipoxygenase pathway have been implicated in the majority of self-improving collodion ichthyosis (SICI). In SICI, the shedding of the collodion membrane reveals clear skin or only mild residual manifestation of ichthyosis. Here we report the case of a girl born with a severe form of collodion baby phenotype, whose skin almost completely cleared within the first month of life. At the age of 3 years, only mild symptoms of a keratinization disorder remained. However, the severity of erythema and scaling showed mild fluctuations over time. To objectively evaluate the skin changes of the patient, we assessed the ichthyosis severity index. Upon sequencing of the ALOX12B gene, we identified a previously unreported heterozygous nonsense mutation, c.1607G>A (p.Trp536Ter) with the recurrent, heterozygous mutation c.1562A>G (p.Tyr521Cys). Thereby, our findings expand the genotypic spectrum of SICI. In addition, we summarize the spectrum of further genetic diseases that can present at birth as collodion baby, in particular the SICI.

Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients

2018 ◽  
Vol 33 (11) ◽  
pp. 713-717 ◽  
Author(s):  
Afnan AlGhamdi ◽  
Muhammad Talal Alrifai ◽  
Abdullah I. Al Hammad ◽  
Fuad Al Mutairi ◽  
Abdulrahman Alswaid ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Case Series ◽  
Brain Magnetic Resonance Imaging ◽  
Propionic Acidemia ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Epileptiform Discharges ◽  
Magnetic Resonance Imaging Mri ◽  
Autosomal Recessive Manner ◽  
Delayed Myelination

Propionic acidemia is an inborn error of metabolism that is inherited in an autosomal recessive manner. It is characterized by a deficient propionyl-CoA carboxylase due to mutations in either of its beta or alpha subunits. In the literature, there is a clear association between propionic acidemia and epilepsy. In this cohort, we retrospectively reviewed the data of 14 propionic acidemia patients in Saudi Arabia and compared the findings to those of former studies. Six of the 14 (43%) patients developed epileptic seizure, mainly focal seizures. All patients were responsive to conventional antiepileptic drugs as their seizures are controlled. The predominant electroencephalographic (EEG) findings were diffuse slowing in 43% and multifocal epileptiform discharges in 14% of the patients. In 1 patient, burst suppression pattern was detected, a pattern never before reported in patients with propionic acidemia. Brain magnetic resonance imaging (MRI) findings mainly consisted of signal changes of the basal ganglia (36%), generalized brain atrophy (43%), and delayed myelination (43%).The most common genotype in our series is the homozygous missense mutation in the PCCA gene (c.425G>A; p. Gly142Asp). However, there is no clear genotype–seizure correlation. We conclude that seizure is not an uncommon finding in patients with propionic acidemia and not difficult to control. Additional studies are needed to further elaborate on genotype–seizure correlation.

scholarly journals A Case Report on Congenital Ichthyosis - Collodion Baby

2016 ◽  
Vol 11 (1) ◽  
pp. 39-42
Author(s):  
Md Kamrul Hassan ◽  
Aloke Kumar Saha ◽  
Poly Begum ◽  
Tahmina Akter ◽  
Shyamol Kumar Saha
Keyword(s):  
Case Report ◽  
Initial Phase ◽  
Severe Form ◽  
Clinical Entity ◽  
Self Healing ◽  
Lamellar Ichthyosis ◽  
Congenital Ichthyosis ◽  
Ichthyosis Vulgaris ◽  
Collodion Baby ◽  
Lamellar Type

Collodion baby describes a highly characteristic clinical entity in newborns encased in a yellowish translucent membrane resembling collodion. In most cases the condition either precedes the development of one of a variety of ichthyoses, the commonest of which are lamellar ichthyosis and non-bullous ichthyosiform erythroderma, or occasionally represents an initial phase of other ichthyoses such as ichthyosis vulgaris. In at least 10% of all cases of collodion baby, the condition is followed by a mild ichthyosis of lamellar type, so mild as to be considered more or less normal, so-called self-healing collodion baby or 'lamellar ichthyosis of the newborn'. In this report, we present a severe form of ichthyosis.Faridpur Med. Coll. J. Jan 2016;11(1): 39-42

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