research A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A specific gene mutation causes sparse, brittle hair in a family.
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330-360 / 1000+ resultsresearch Hidradenitis suppurativa and Mediterranean fever gene mutations
Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
research A Congenital Hair Defect: Trichoschisis With Alternating Birefringence and Low Sulfur Content
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research Keratosis Follicularis Spinulosa Decalvans. What Syndrome Is This?
Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
research Sjogren’s Disease: A Case Report on the Multifaceted Disease
Early diagnosis and a multidisciplinary approach are key to managing Sjogren's Disease symptoms.
research Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
research Bald thigh syndrome in sighthounds—Revisiting the cause of a well-known disease
Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
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 Skin signs of systemic diseases
Looking at skin can help find and treat serious diseases early.
research Delayed treatment leading to multisystem complications in a child with SLE
Early diagnosis and treatment of SLE are crucial to prevent severe complications.
research Polycystic ovary syndrome, medical semantics, and the political ecology of health in India
PCOS in India is linked to broader sociocultural and environmental changes, not just diet and exercise.
research Total Excision Techniques in Donor Area Harvesting for Hair Transplanting
The Total Excision Techniques improve hair transplant results by increasing grafts by at least 50% and reducing scarring.
research Philosophy and technique in hair restoration surgery
Hair restoration surgery has evolved over time, with a focus on natural-looking results and managing patient expectations, while also considering potential complications and the lifelong progression of male pattern baldness.
research Interpolated Melolabial Flaps: Reconstruction of Alar and Columellar Units
Using cheek skin and cartilage grafts for nose reconstruction after skin cancer surgery can maintain shape and function but may require multiple surgeries and hair removal in men.
research Ethnopharmacology and hair: Indian perspectives
Traditional Indian remedies are used for hair health, but more scientific evidence is needed to prove their safety and effectiveness.
research Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
research Systemic Lupus Erythematosus—Vasculopathy/Vasculitis, Susac Syndrome, and Myasthenia Gravis
Systemic lupus erythematosus is an autoimmune disease causing diverse symptoms and major organ involvement.
research Adult-onset Satoyoshi syndrome in a young male
A rare autoimmune condition, Satoyoshi syndrome, can start in adults and improve with immunosuppressive treatment.
research Association between SQSTM1 dysregulation and risk in alopecia areata: a Mendelian randomization study
SQSTM1 gene issues may increase the risk of alopecia areata.
research Efficacy and safety of autologous hematopoietic stem cell transplantation in treating type 1 diabetes mellitus
AHST shows promise for treating type 1 diabetes but needs more research before widespread use.
research Satoyoshi Syndrome: Difficult to find or treat?
Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
research Autoimmunity in Satoyoshi Disease: a Systematic Review
Satoyoshi syndrome is likely an autoimmune disease that mainly affects young women and improves with immune-related treatments.
research R-Spondin-1 Level in Different Dermatoses: A Comprehensive Review
R-Spondin-1 is important for skin health and could help diagnose and treat various skin conditions.
research SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
research HIV infection mimicking autoimmune disorder
A girl with symptoms like an autoimmune disorder actually had HIV and a fungal infection, which was hard to diagnose and treat, leading to her death.
research Perifollicular haemorrhage with corkscrew hair due to scurvy
Scurvy can cause skin issues and is treatable with vitamin C.
research Diagnosis of Trichothiodystrophy in 2 Siblings
Two siblings were diagnosed with Trichothiodystrophy, identified by brittle hair and low sulfur content.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research The character “hairless” in the mouse
Hairless mice lack fur due to a genetic mutation affecting skin response, not hormone issues.