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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210-240 / 719 results 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 Hystrix: A Rare Case in a Three-Day-Old Male Infant
A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
research Genetics
Certain gene mutations can weaken the skin barrier and, when combined with environmental factors, lead to eczema and severe itching.
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 Overlaps Between Inflammatory Dermatoses and Ichthyoses: Need for Novel Therapeutic Approaches
Patients with ichthyosis often experience symptoms similar to psoriasis and atopic dermatitis, suggesting that targeted therapies could improve their condition.
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 A New Heterozygous Frameshift Variant in Keratin 10 Resulting in Ichthyosis Hystrix in a Father and Daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Ichthyosis Vulgaris Involving the Scalp Area Affected by Androgenetic Alopecia
research Clearance of Ichthyosis Linearis Circumflexa with Balneophototherapy
Balneophototherapy effectively treats ichthyosis linearis circumflexa but may need ongoing treatment due to short remission.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research Ichthyosis Follicularis With Alopecia And Photophobia Syndrome With Coexisting Palmoplantar Keratoderma Treated With Acitretin
A girl with a rare skin condition improved after one month of treatment with acitretin.
research Inherited Ichthyosis: Syndromic Forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
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 Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome: A Clinical Spectrum Due to SREBF1 Variants
A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
research The Keratins and Their Disorders
Mutations in keratin genes cause cell fragility and various skin disorders.
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 Ichthyosis Follicularis Alopecia and Photophobia Syndrome: Transient Improvement with Oral Isotretinoin
Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
research Biological Significance of FoxN1 Gain-of-Function Mutations During T and B Lymphopoiesis in Juvenile Mice
FoxN1 overexpression in young mice harms immune cell and skin development.
research A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Ichthyosis Follicularis with Alopecia and Photophobia (IFAP): Late Diagnosis in 18-Year-Old Man
An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.
research Ichthyosis Linearis Circumflexa in a Child: Response to Narrowband UVB Therapy
Narrowband UVB therapy significantly improved a child's rare skin condition.
research Netherton's Syndrome: A Syndrome of Elevated IgE and Characteristic Skin and Hair Findings
Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
research Keratosis Pilaris Is a Keratinization of Hair Follicles
Keratosis pilaris is a common skin condition where hair follicles get clogged with keratin, mostly on the arms and thighs.
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 Dermatological Aspects of the S2k Guidelines on Down Syndrome in Childhood and Adolescence
Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
research Formation of the Cornified Envelope
The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
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 Skin, Genetic Defects, and Aging
Genetic defects and UV radiation cause skin damage and aging.
research The Skin Landscape in Diabetes Mellitus: Focus on Dermocosmetic Management
Proper skin care and dermocosmetics improve skin issues in diabetes patients.