research Novel Mutations of the ABCA12, KRT1 and ST14 Genes in Three Unrelated Newborns Showing Congenital Ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
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research Prioritization of Therapy Uncertainties in Congenital Ichthyosis: Results from a Priority Setting Partnership
The top research priorities for congenital ichthyosis include long-term side effects of oral retinoids, best topical treatments, and treatments for itch and hair loss.
research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research A Syndrome of Congenital Ichthyosis, Mental Retardation, Myopathy, and Anemia in Dizygotic Twin Sisters
The twins' condition is unique and doesn't match any known syndromes.
research Identification of a Novel PNPLA1 Mutation in a Spanish Family with Autosomal Recessive Congenital Ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research NIPAL4 Deletion Identified in an American Bully with Autosomal Recessive Congenital Ichthyosis and Response to Topical Therapy
An American Bully with a genetic skin condition improved significantly with specific topical treatments.
research Topical Polyhydroxy Acid Treatment for Autosomal Recessive Congenital Ichthyosis in the Golden Retriever: A Prospective Pilot Study
Gluconolactone products can significantly reduce skin scaling in golden retrievers with ARCI.
research Advances in the Treatment of Autosomal Recessive Congenital Ichthyosis: A Look Towards the Repositioning of Drugs
Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
research Chronic Ulceration of the Scalp Associated with Genetically Different Types of Congenital Ichthyosis: A Series of Four Cases
Some scalp sores are linked to different inherited skin conditions.
research Recent Advances in Congenital Ichthyoses
New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
research Management of Congenital Ichthyoses: European Guidelines of Care, Part Two
European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
research Ichthyosis With Confetti: A Rare Diagnosis And Treatment Plan
A rare skin disorder, Ichthyosis with confetti, has no cure but treatment focuses on managing symptoms with moisturizers.
research Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Skin Barrier, Phenotypic and Genotypic Characterization of Autosomal Recessive Ichthyosis in TGM1-Deficient Jack Russell Terriers and Response to Topical Ceramide
Topical ceramide treatment partially improves the skin condition in Jack Russell Terriers with a genetic skin disorder.
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research Disorders of Keratinization
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
research Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins
Environmental factors can cause mutations in skin proteins, leading to skin disorders.
research Secondary Cicatricial and Other Permanent Alopecias
The document concludes that permanent hair loss conditions are complex, require early specific treatments, and "secondary permanent alopecias" might be a more accurate term than "secondary cicatricial alopecia."
research Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
research Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
research Inherited Ichthyosis: Syndromic Forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Novel Adenosine Triphosphate-Binding Cassette, Subfamily A, Member 12 Mutations Associated with Congenital Ichthyosiform Erythroderma
New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
research Lamellar Ichthyosis with Pseudoexon Activation in the Transglutaminase 1 Gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Congenital Atrichia and Hypotrichosis
The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
research Ichthyosis Fetalis in a Cross-Bred Lamb
A cross-bred lamb with severe skin and movement issues had ichthyosis fetalis but normal vitamin A levels.
research Prognosis and Management of Congenital Hair Shaft Disorders Without Fragility—Part II
Some congenital hair disorders improve with age and can be managed with treatments like minoxidil, retinoids, supplements, and gentle hair care, but there's no cure.
research Dental Management in a 7-Year-Old Child with Ichthyosis Vulgaris: A Rare Case Report
Dentists should start preventive treatments early for children with Ichthyosis Vulgaris to avoid dental problems.
research Harlequin Ichthyosis
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.