research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
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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 Sebaceous Carcinoma Arising at a Chronic Candidiasis Skin Lesion of a Patient with Keratitis-Ichthyosis-Deafness (KID) Syndrome
A man with KID syndrome developed a rare cancer in a long-term skin infection.
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 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 Endocrine Disorders in Woodhouse-Sakati Syndrome: A Systematic Review of the Literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – Out of the Woods
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Porokeratotic Adnexal Ostial Nevus: A Paradigm of Cutaneous Mosaicism
PAON shows skin patterns due to genetic mosaicism.
research Ichthyosiform Erythroderma: A Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
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 C2orf37 Mutational Spectrum in Woodhouse-Sakati Syndrome Patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research Melanocytes: The New Black
Melanocytes are crucial for skin pigmentation and can affect conditions like melanoma, vitiligo, and albinism, as well as hair color and hearing.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research Alopecia Treated with Just 3 Sessions of PRP Mixed with Calcium Chloride
Three sessions of PRP mixed with calcium chloride effectively treated alopecia.
research A Locus on Distal Chromosome 10 (Ahl4) Affecting Age-Related Hearing Loss in A/J Mice
Scientists found a gene in mice that causes early hearing loss.
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 Minoxidil Dose Response Study in Female Pattern Hair Loss Patients Determined to Be Non-Responders to 5% Topical Minoxidil
Higher minoxidil dose helps hair growth in non-responders without side effects.
research From Genotoxic Stresses to Skin Damage: Distinct, Novel Mechanisms of Skin and Hair Damage in Chemo/Radiation Therapy
Chemotherapy and radiation therapy cause skin and hair damage by altering gene expression and signaling pathways.
research Early and Late Matrix Progenitors Form the Terminally Differentiated Cell Layers of the Hair Follicle
Early and late matrix progenitors in hair follicles create different cell layers, with early ones forming the companion layer and later ones forming the inner root sheath and hair shaft.
research Spatiotemporal Antagonism in Mesenchymal-Epithelial Signaling in Sweat Versus Hair Fate Decision
Sweat glands and hair follicles are determined by opposing signals, with BMPs promoting sweat glands and blocking BMPs leading to hair follicles.
research Applying FACS-Based Single Cell RNA-Seq to Study Neonatal Mouse Skin
Researchers improved a method to study individual cells in newborn mouse skin and found a way to assess the severity of a skin condition in humans.
research Histologic and Immunohistochemical Evaluation of Lichen Planopilaris and Correlation with Clinical Disease Severity
The study found a link between the severity of Lichen Planopilaris seen by doctors and the details seen under a microscope, and created a new way to measure this severity.
research Clinical Snippets: Insights into Dermatological Health and Disease
Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
research News And Announcements: 1994 AAO-HNS Research Grants, Workshops, And New Officers
Several doctors received research grants, new workshops and conferences were announced, and new officers were elected.
research Hair Bundle Defects and Loss of Function in the Vestibular End Organs of Mice Lacking the Receptor-Like Inositol Lipid Phosphatase PTPRQ
Mutations in the PTPRQ gene cause significant balance issues in mice due to hair bundle defects in the inner ear.
research Tumor Mapping in Two Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research Dermatological Manifestations of Down's Syndrome
People with Down's syndrome often have more skin problems due to a weak immune system.
research Mesotherapy for Local Fat Reduction
Mesotherapy might help reduce fat in specific areas for those close to their ideal weight, but more research and care are needed to ensure safety.
research Porokeratotic Adnexal Ostial Nevus: Review on the Entity and Therapeutic Approach
Laser treatments are the most effective for porokeratotic adnexal ostial nevus.