research Case of Epidermolytic Ichthyosis with a Novel L157P Mutation in KRT10 Complicated by Hypercalcemia
A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
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research Surgical Approach of Ectropion in Lamellar Ichthyosis
Surgery on a baby with a skin disorder improved eyelid position and eye health.
research Acquired Ichthyosis, Alopecia, and Loss of Hair Pigment Associated with Leiomyosarcoma
Removing a tumor may resolve associated skin and hair symptoms.
research Role of Cholesterol Sulfate in Epidermal Structure and Function: Lessons from X-Linked Ichthyosis
Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
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 Steroid-Resistant Nephrotic Syndrome Associated with Steroid Sulfatase Deficiency—X-Linked Recessive Ichthyosis: A Case Report and Review of Literature
A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
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 Superficial Epidermolytic Ichthyosis—Hypertrichosis as a Clue to Diagnosis
Hypertrichosis (excessive hair growth) can help diagnose superficial epidermolytic ichthyosis.
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 Mutation-Specific siRNA Knockdown of GJB2: Potential Gene Therapy for Keratitis-Ichthyosis-Deafness Syndrome
Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
research Disorders of Keratinization
Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
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 Retinoids and Keratinization
Retinoids can help treat skin disorders by improving the skin's outer layer.
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 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 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 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 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.