research Disorders of Keratinization
Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
Search
for
Sort by
Research
60-90 / 752 results
research Recent Advances in Congenital Ichthyoses
New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
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 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 Noncalcemic Actions of 1,25-Dihydroxyvitamin D3 and Clinical Applications
Vitamin D3 is important for bone health and may help treat various diseases beyond bone-related conditions.
research Cutaneous Syndromes Produced as Side Effects of Triparanol Therapy
Triparanol therapy can cause hair loss and skin dryness without inflammation or damage to hair follicles or skin structures.
research The Keratins and Their Disorders
Mutations in keratin genes cause cell fragility and various skin disorders.
research Oral Retinoids in Dermatology
Oral retinoids are effective for severe skin conditions but require careful use due to side effects.
research Retinoids and Keratinization
Retinoids can help treat skin disorders by improving the skin's outer layer.
research Chemotherapy of Psoriasis and Other Skin Disorders with Oral Retinoids
Oral retinoids are effective for treating severe skin disorders but have reversible side effects and risks for pregnant women.
research Sjogren-Larsson Syndrome: Case Study of a 9-Year-Old Boy
A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.
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 Symmetrical Acrokeratoderma: A Peculiar Entity in China? Clinicopathologic and Immunopathologic Study of 34 New Cases
Symmetrical Acrokeratoderma (SAK) may be a unique skin condition in China, lacking specific treatment and needing long-term monitoring.
research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
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 Sjogren-Larsson Syndrome: Case Report of a 21-Year-Old Woman
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
research Skin Manifestations of Hypothyroidism: A Clinical Study
Most people with hypothyroidism have skin problems like dry skin and hair loss.
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 Collodion Baby Case Series: The Success of Oral Retinoic Acid
Oral retinoic acid effectively treated collodion baby, with hair loss as the main side effect.
research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
research Gene Therapy: Recent Advances and Applications in Dermatology
Gene therapy shows promise for treating skin disorders and cancer, but faces technical challenges.
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Novel Association of Trichothiodystrophy With Autoimmune Thyroiditis and Autoimmune Hemolytic Anemia: A Case Report
A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
research Genes of Congenital Dermatologic Disorders in Dogs: A Review
Over half of the dog skin disorders discussed have known gene variants, enabling genetic testing for diagnosis and responsible breeding.
research Relationship Between the Level of Vitamin D in Blood Flow and Skin Dermatosis
Low vitamin D levels are linked to more skin problems.
research Congenital and Hereditary Skin Diseases in Bovines
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
research What's New in Pediatric Dermatology?
In 2017, pediatric dermatology advanced with new treatments and insights into various skin conditions in children.
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 Novel Drugs Targeting Retinoic Acid Receptors
Newer retinoid drugs are effective for skin conditions but have significant side effects.