research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
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840-870 / 1000+ results research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research Short anagen syndrome: Case series and literature review
Children with short anagen syndrome usually see their hair condition improve as they get older.
research Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
Researchers found a new mutation causing total hair loss from birth.
research Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case
Progeria causes early aging due to a gene mutation, affecting skin, bones, and heart, with treatments aimed at improving life quality.
research Christmas article: Case of uncombable hair syndrome discovered after publication of article in Ugeskrift for Læger
Digital access to medical info can help identify rare conditions.
research Epidermal Nevi
Epidermal nevi are skin cell clusters linked to various syndromes.
research P142 – 3046: Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: Report of additional three cases
ECCL should be considered in patients with specific skin and eye lesions.
research Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
research Hair Anomalies in a 6-Year-Old Girl
A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.
research A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report
A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
research Impaired Lef1 activation accelerates iPSC-derived keratinocytes differentiation in Hutchinson-Gilford Progeria Syndrome
Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
research Acquired uncombable hair
A 39-year-old woman developed uncombable hair syndrome after taking oral contraceptives.
research Monilethrix: Beaded hair and hypotrichosis in a child
A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
research Effects of Sex Steroid Deprivation/Administration on Hair Growth and Skin Sebum Production in Transsexual Males and Females
Hormone treatments in transsexual individuals reduce hair growth and oil production in male-to-females and increase them in female-to-males.
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 Effect of Tectona grandis Linn. seeds on hair growth activity of albino mice
Tectona grandis Linn. seeds extract improved hair growth in mice better than minoxidil.
research Mesococktails and mesoproducts in aesthetic dermatology
The document concludes that mesotherapy can be effective for skin and hair treatments, but more research is needed to confirm its safety and effectiveness.
research Histopathologic profile of alopecia areata in Indian patients
The study found that the cause of alopecia areata can be identified through tissue analysis, and vertical sections are enough for diagnosis.
research Mesotherapy: myth and reality
Mesotherapy lacks strong evidence for effectiveness and safety, and its ingredients are not FDA-approved for subcutaneous use.
research A systematic review of randomized controlled trials assessing phytochemicals and natural ingredients for skin and hair care
Natural ingredients can improve skin and hair, but more research is needed.
research Platelet Concentrates in Regenerative Medicine: A Comparative Review of Platelet-Rich Plasma, Platelet-Rich Fibrin, and Concentrated Growth Factors
PRF and CGF are becoming more popular than PRP in regenerative medicine due to their simplicity and lack of additives.
research Exosomes as Emerging Therapeutics in Aesthetic and Regenerative Medicine: A Scoping Review
Exosomes show promise for anti-aging and regenerative treatments.
research Familial Cortisol Resistance: Differential Diagnostic and Therapeutic Aspects
The woman had a genetic condition causing high cortisol and androgen levels, treatable with dexamethasone.
research WNT10A gene variants at the root of short anagen hair syndrome
WNT10A gene mutations cause short anagen hair syndrome.
research Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty
In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.
research SAT-213 Late Diagnosis of Complete Androgen Insensitivity
A 31-year-old woman was diagnosed with Complete Androgen Insensitivity Syndrome much later than usual, leading to a call for earlier detection and treatment guidelines.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review
Zinc supplements improved symptoms in a Uyghur infant with a rare genetic disorder affecting zinc absorption.
research Harlequin fetus with abnormal lamellar granules and giant mitochondria
Harlequin ichthyosis involves abnormal skin cell structures and giant mitochondria, affecting skin and hair.