research Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
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480-510 / 1000+ resultsresearch Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
research P378: Expanding the phenotype of hyper-IgE syndrome: Heterozygous VUS in IL6ST with elevated serum IgE and isolated abscesses
A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
research Monilethrix in three generations
Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
research Monilethrix – Case report of a rare disease
Monilethrix causes fragile, patchy hair loss.
research A retrospective study on the characteristics of androgenetic alopecia among Asian races in the National Skin Centre, a tertiary dermatological referral centre in Singapore.
Most patients with hair loss sought treatment for cosmetic reasons, were unhappy about their appearance, and had a family history of the condition, suggesting it may be inherited.
research Uncovering the genetic architecture and evolutionary roots of androgenetic alopecia in African men
The research found that genetic factors for male pattern baldness in African men differ significantly from those in Europeans.
research The inheritance of common baldness: Two B or not two B ?
Common baldness is likely inherited through multiple genes, not just one.
research Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless
The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.
research Tricorrexis nudosa localizada por aplicación compulsiva de minoxidil
Excessive minoxidil use can damage hair structure.
research Frontal Fibrosing Alopecia and the Role of Cosmeceuticals in Its Pathogenesis
Cosmeceuticals like sunscreens may trigger frontal fibrosing alopecia, but more research is needed.
research Familial Frontal Fibrosing Alopecia
Familial frontal fibrosing alopecia is rare, mostly affects women, and often occurs between sisters or mother-daughter pairs.
research Frontal Alopecia after Repeated Botulinum Toxin Type A Injections for Forehead Wrinkles: An Underestimated Entity?
Repeated botulinum toxin injections for forehead wrinkles may cause hairline recession in some women.
research Microneedling plus topical dutasteride solution for androgenetic alopecia: a randomized placebo‐controlled study
Microneedling with topical dutasteride improves hair growth in men with hair loss and is safe to use.
research Nutrition and hair
Certain groups may need vitamin supplements to improve hair health and prevent other health problems.
research Pattern Baldness: Its Genetics Revisited
Pattern baldness is likely caused by a dominant gene influenced by testosterone levels, making it more common in men.
research Dermatopathia Pigmentosa Reticularis with Salzmann’s nodular degeneration of cornea: A rare association
An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
research Metformin influence on hormone levels at birth, in PCOS mothers and their newborns
Metformin taken during pregnancy increases SHBG in newborns but doesn't change other hormone levels in mothers or babies.
research Dermatological Manifestations of Down's Syndrome
People with Down's syndrome often have more skin problems due to a weak immune system.
research Efficacy of Intralesional and Oral Dutasteride in the Treatment of Androgenetic Alopecia: A Systematic Review
Oral dutasteride works better for hair loss, but has more sexual side effects; intralesional dutasteride is a possible alternative.
research Monilethrix, a rare inherited hair shaft disorder in siblings
Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research Nonclassic Congenital Adrenal Hyperplasia: An Overview
Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
research Characterization of X-Linked SNP genotypic variation in globally distributed human populations
The research concluded that selection significantly shaped the genetic variation of the X chromosome, with certain regions affected by past selective events.
research Late presentation of myotonic dystrophy
Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
research The Hair Shedding Visual Scale: A Quick Tool to Assess Hair Loss in Women
The new visual scale is a quick and effective way to measure hair loss in women.
research Diagnostic approach to low‐renin hypertension
Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.