research Harlequin Ichthyosis (ICHQ): A Juvenile Lethal Mouse Mutation with Ichthyosiform Dermatitis
The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
Search
for
Sort by
Research
570-600 / 713 results
research Porokeratotic Eccrine Duct and Hair Follicle Nevus (PEHFN) Associated with Keratitis-Ichthyosis-Deafness (KID) Syndrome
A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
research Connexin 26 (GJB2) Mutations in Keratitis–Ichthyosis–Deafness Syndrome Presenting with Squamous Cell Carcinoma
Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
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 Missense Mutation Y449H of the K10 Gene in a Patient with Severe Epidermolytic Ichthyosis
A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
research Harlequin Ichthyosis
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
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.
research Acquired Ichthyosis, Alopecia, and Loss of Hair Pigment Associated with Leiomyosarcoma
Removing a tumor may resolve associated skin and hair symptoms.
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 Superficial Epidermolytic Ichthyosis—Hypertrichosis as a Clue to Diagnosis
Hypertrichosis (excessive hair growth) can help diagnose superficial epidermolytic ichthyosis.
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 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 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 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 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 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 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 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 What's New in Pediatric Dermatology?
In 2017, pediatric dermatology advanced with new treatments and insights into various skin conditions in children.
research Two Novel MBTPS2 Missense Mutations Impairing S2P Proteolytic Activity Lead to IFAP Syndrome With New Phenotypic Anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research A Null Mutation in the Cystatin M/E Gene of Ichq Mice Causes Juvenile Lethality and Defects in Epidermal Cornification
A gene mutation in mice causes skin defects and early death.
research Clinical Snippets: Melanoma Risk Prediction, Monilethrix Mutation, Keratitis-Ichthyosis-Deafness Syndrome, Skin Wrinkling and Lung Aging, Oxidative Stress in Androgenetic Alopecia
Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
research Ichthyoses
Ichthyoses are skin disorders causing scales, with treatment depending on type and severity.
research Skin Diseases in the Alpaca (Vicugna Pacos): A Literature Review and Retrospective Analysis of 68 Cases (Cornell University 1997–2006)
Many alpacas have skin diseases, with bacterial infections being the most common.
research Finding Models for Skin Diseases: Successes and Failures
The document concludes that while finding animal models for the skin disease Hidradenitis suppurativa is challenging, certain mouse mutations may provide useful insights for research and drug testing.
research Inflammatory Vegetative Lesions of the Perineum: A Rare and Severe Clinical Presentation of Netherton Syndrome
Netherton Syndrome can cause severe skin lesions in rare cases.
research Subcutaneous Emphysema Resulting from Liquid Nitrogen Spray
Liquid nitrogen spray caused a temporary, harmless swelling under the skin in an elderly woman.