research Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis
Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
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research SUN-069 A 14 Year Old Female with Primary Amenorrhea
A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.
research Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
research Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research A Case of Loose Anagen Hair Syndrome in a Southeast Asian Boy
A Thai boy was diagnosed with a rare hair disorder causing hair thinning and shedding.
research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research Erythromelanosis follicularis faciei et colli with reticulated hyperpigmentation of the extremities
A rare skin condition causes red and dark patches on the face and limbs.
research A 9-month-old infant with severe scalp dermatosis
The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
research Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure
Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.
research Expanding the Phenotypic Spectrum of Olmsted Syndrome
TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.
research A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
A specific gene mutation causes complete hair loss in an Irish Traveller family.
research Neurochemical and Immunocytochemical Studies of Catecholamine System in the Brindled Mouse
Brindled mice show abnormal catecholamine neuron development due to copper deficiency.
research Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
research 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review
No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
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 Nevus Comedonicus (Blaschkoid Variant)
A 14-year-old boy has a skin condition called nevus comedonicus, treated with tretinoin cream.
research High-sulfur protein deficient human hair: clinical aspects and biochemical study of two unreported cases of a variant type of trichothiodystrophy
Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
research Novel KRT83 and KRT86 mutations associated with monilethrix
New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research SAT-369 Marine-Lenhart Syndrome: Case Report
Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.
research Cronkhite-Canada Syndrome (CCS)—A Rare Case Report
Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.
research Alopecia in a 19-Month-Old Boy
A 19-month-old boy with a rare hair disorder showed mild improvement with treatment, but his family chose gentle hair care due to limited success.
research CONGENITAL ATRICHIA.*
Congenital atrichia is a rare condition where children are born without hair, and treatment is often ineffective.
research [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
A gene mutation causes monilethrix in a Chinese family.
research Protein and amino acid composition of hair from mice carrying the naked (N) gene
The N gene affects the protein makeup of mouse hair.
research Late presentation of myotonic dystrophy
Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
research Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
research Choroidal Melanoma and Lid Fibrofoliculomas in Birt-Hogg-Dubé Syndrome
A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
research Naevus trichilemmocysticus – the first paediatric case of a newly delineated organoid naevus
The first pediatric case of naevus trichilemmocysticus was documented.