Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis (original) (raw)
Related papers
Ichthyosis Prematurity Syndrome: A Rare Form but Easily Recognizable Ichthyosis
Case Reports in Dermatology, 2021
Ichthyosis prematurity syndrome is a rare autosomal recessive genodermatosis that is associated with mutations in the SLC27A4 gene. Its onset occurs in early childhood and presents with the clinical triad of premature birth, thick caseous desquamating epidermis, and neonatal asphyxia. Here, we describe a prematurely born baby patient (33 weeks of gestation) with a homozygous variant at the initiation codon site (c.1 A> G, p.Met1Val) in the SLC27A4 gene to raise awareness of this rare syndrome despite its distinctive features as we believe it is still underdiagnosed.
Collodion baby-congenital ichthyosis: clinical review
International Journal of Contemporary Pediatrics
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”.
Lamellar Ichthyosis in a Female Neonate with a Novel Mutation on TGM1 Gene
Pediatric Oncall, 2023
Congenital ichthyosis comprise a group of genetic disorders caused by mutations in the keratinocyte differentiation and consequent disruption of the skin barrier function. Autosomal recessive congenital ichthyosis is a heterogeneous, non-syndromic subgroup characterized by a defect in skin cornification, hyperkeratosis, scaling and erythroderma. The term collodion baby encompasses neonates wrapped at birth in a shiny collodion membrane that peels away in the first weeks of life and is gradually replaced by the definitive phenotype. We report a case of a collodion baby that progressed to a lamellar ichthyosis (LI) with a novel mutation of the TGM1 gene that has not been reported in the literature. This case highlights the need to expand the spectrum of TGM1 mutations in order to understand the etiopathogenesis of LI.
Rare Case Report-Neonatal Lamellar Ichthyosis in Newborn - Collodian Baby
Lamellar ichthyosis, also known as ichthyosis lammellaris and non-bullous congenital ichthyosis, is a rare inherited skin disorder, affecting around 1 in 600,000 people. Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often cover the skin and may resemble fish scales. In medicine, the term collodion baby applies to newborns that appear to have an extra layer of skin (known as a collodion membrane) that has a collodion -like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Clinically, the collodion babies may encounter dehydration, electrolyte imbalance, temperature malfunction and increasing sepsis risk 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 intense care units and appropriate and supportive treatment must be undertaken.
Rare case of Neonatal Lamellar Ichthyosis - Collodian baby
Lamellar ichthyosis, also known as ichthyosis lammellaris and non-bullous congenital ichthyosis, is a rare inherited skin disorder, affecting around 1 in 600,000 people. Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often cover the skin and may resemble fish scales. In medicine, the term collodion baby applies to newborns that appear to have an extra layer of skin (known as a collodion membrane) that has a collodion -like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Clinically, the collodion babies may encounter dehydration, electrolyte imbalance, temperature malfunction and increasing sepsis risk 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 intense care units and appropriate and supportive treatment must be undertaken.
Journal of Medical Genetics, 2001
Introduction-Congenital disorders of glycosylation (CDG), or carbohydrate deficient glycoprotein syndromes, form a new group of multisystem disorders characterised by defective glycoprotein biosynthesis, ascribed to various biochemical mechanisms. Methods-We report the clinical, biological, and molecular analysis of 26 CDG I patients, including 20 CDG Ia, two CDG Ib, one CDG Ic, and three CDG Ix, detected by western blotting and isoelectric focusing of serum transferrin. Results-Based on the clinical features, CDG Ia could be split into two subtypes: a neurological form with psychomotor retardation, strabismus, cerebellar hypoplasia, and retinitis pigmentosa (n=11), and a multivisceral form with neurological and extraneurological manifestations including liver, cardiac, renal, or gastrointestinal involvement (n=9). Interestingly, dysmorphic features, inverted nipples, cerebellar hypoplasia, and abnormal subcutaneous fat distribution were not consistently observed in CDG Ia. By contrast, the two CDG Ib patients had severe liver disease, enteropathy, and hyperinsulinaemic hypoglycaemia but no neurological involvement. Finally, the CDG Ic patient and one of the CDG Ix patients had psychomotor retardation and seizures. The other CDG Ix patients had severe proximal tubulopathy, bilateral cataract, and white matter abnormalities (one patient), or multiorgan failure and multiple birth defects (one patient). Conclusions-Owing to the remarkable clinical variability of CDG, this novel disease probably remains largely underdiagnosed. The successful treatment of CDG Ib patients with oral mannose emphasises the paramount importance of early diagnosis of PMI deficiency.
Obstetrical aspects in congenital ichtyosis
2016
We present a case of congenital ichthyosis because obstetrical literature is scarce and most obstetricians could need a reminder and update. Congenital ichthyosis (CI) comprises a variety of skin disorders characterised by abnormal keratinization of the epidermis, which are mostly transmitted in an autosomal recessive manner. This condition is rare (seven per million people) with various clinical neonatal expressions and diversified prognosis, from self-healing to lethal. Even less severe phenotypes have significant associated morbidity and mortality. CI babies are often born prematurely and are at highest risk for complications during the postnatal period .CI, while fairly rare, is a condition well described in the literature, mainly from the neonatal point of view. We describe a case in which congenital ichthyosis was diagnosed after birth, and summarise the present literature with particular attention on obstetric implications as the prenatal diagnosis, genetic and ultrasound tes...