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.
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research Pachyonychia Congenita: Sporadic Onset With Mutation Analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research Delayed-Onset Pachyonychia Congenita Caused by a Novel Mutation in the V2 Domain of Keratin 6B
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research Inherited Ichthyoses: Generalized Mendelian Disorders of Cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Botryococcus Terribilis Ethanol Extract Exerts Anti-Inflammatory Effects on Murine RAW264 Cells
Botryococcus terribilis Ethanol Extract may reduce inflammation by changing gene expression in cells.
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 Novel Presentation of a Heterozygous INSR Mutation and Markedly Elevated Testosterone Levels in a Pediatric Patient: A Case Report
A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
research Human Hair Follicle Organ Culture: Theory, Application, and Perspectives
Human hair follicle organ culture is a useful model for hair research with potential for studying hair biology and testing treatments.
research G4 Is a New Transgenic Mouse Model for Polycystic Ovary Syndrome
Researchers created a new mouse model, G4, that mimics human PCOS symptoms and links the condition to a specific gene.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
research Azathioprine-Induced Alopecia Totalis and Knuckle Hyperpigmentation in a Child with Uveitis: Test Before You Leap!
Monitor for early signs of azathioprine toxicity and check blood counts regularly.
research Poster Presentations SG11 KRT14 Pathogenic Or Likely Pathogenic Variants Beyond Epidermolysis Bullosa: Dermatopathia Pigmentosa Reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
research Two Females With Hair Loss
A mother and daughter have a rare genetic hair loss disorder with no effective treatment.
research Spinal and Bulbar Muscular Atrophy: Pathogenesis and Clinical Management
Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
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 Thiopurines: Recent Topics and Their Role in the Treatment of Inflammatory Bowel Diseases
Thiopurines help treat IBD but require genetic testing to avoid side effects.
research An Early Diagnosis of Trichorhinophalangeal Syndrome Type 1: A Case Report and Review of Literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research Multiple Basal Cell Carcinomas in a Patient with Myotonic Dystrophy Type 1
A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
research Quantitative Analysis of Hair Luster in a Novel Ultraviolet-Irradiated Mouse Model
UV exposure reduced hair shine in mice, but minoxidil helped restore it.
research Rothmund-Thomson Syndrome Type 2 – A Rare Cause of Chronic Wounds
Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
research Understanding Cellular and Molecular Responses in the Treatment of Pediatric Lymphatic Anomalies
Sirolimus and propranolol may reduce abnormal cell growth and improve lymphatic malformations in children.
research Aromatase Deficiency in a Male Patient: Case Report and Literature Review
A male with aromatase deficiency improved bone health with estradiol treatment.
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 Congenital Zinc Deficiency from Mutations of the SLC39A4 Gene as the Genetic Background of Acrodermatitis Enteropathica
A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
research Biotin and Acetazolamide for Treatment of an Unusual Child With Autism Plus Lack of Nail and Hair Growth
Biotin and acetazolamide improved hair and nail growth, mental function, and reduced headaches in a child with autism.
research Heterogeneity in the Genetic Alterations and Clinical Presentation of Acrodermatitis Enteropathica: Case Report and Literature Review
AE can have varied symptoms and genetic causes, but zinc therapy helps.
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of Two Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research Marie-Unna Hereditary Hypotrichosis
A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
research Two Novel BTD Mutations Causing Profound Biotinidase Deficiency in a Chinese Patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.