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.
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research Clinical report of a Holstein's calf with ichthyosis.
A Holstein calf in Iran with a severe genetic skin disorder was euthanized due to incurable symptoms.
research Congenital and Hereditary Skin Diseases
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
research Abstracts from the 2009 Annual Meeting of the Society for Pediatric Dermatology
UVB is good for a skin condition in Asian kids, a lotion works for head lice, a drug helps with a skin blistering disorder, a foam reduces itchiness in skin inflammation, birthmarks can be more widespread, and criteria for a neurocutaneous disorder were agreed upon.
research Influence of donor sources and culture media on the histo-morphological quality of human artificial skin models
EpiLife® media and younger donor age improve artificial skin model quality.
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 Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
Reduced matriptase activity causes skin and hair issues in both humans and mice.
research Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
research Ichthyosis Follicularis With Alopecia and Photophobia
Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
research Genetics of Inherited Ichthyoses and Related Diseases
New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
research Care of the newborn with ichthyosis
Newborns with ichthyosis need specific care based on their skin type.
research Inherited ichthyosis: Syndromic forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
research Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin
Acitretin moderately improved skin and eye issues but not hair loss or light sensitivity in a 3-year-old with IFAP syndrome.
research Ichthyosis with confetti: clinics, molecular genetics and management
Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
research Ichthyosis follicularis with alopecia and photophobia in a mother and daughter
A mother and daughter had severe skin, hair, and eye issues linked to IFAP.
research A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
research Severe form of keratitis–ichthyosis–deafness (KID) syndrome associated with septic complications
Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End ofKRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research New developments in the molecular treatment of ichthyosis: review of the literature
New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Follicular ichthyosis
The four patients have a unique type of ichthyosis affecting hair follicles.
research Netherton's syndrome and ichthyosis linearis circumflexa.
Netherton's syndrome may have a familial link and doesn't always include atopy.
research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research Clearance of ichthyosis linearis circumflexa with balneophototherapy
Balneophototherapy effectively treats ichthyosis linearis circumflexa but may need ongoing treatment due to short remission.
research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Recent advances in congenital ichthyoses
New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
research Ichthyosis linearis circumflexa in a child. Response to narrowband UVB therapy.
Narrowband UVB therapy significantly improved a child's rare skin condition.