research Olmsted syndrome
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
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750-780 / 1000+ resultsresearch Targetoid Hair Regrowth Pattern in Alopecia Areata: A Case Series
A rare hair regrowth pattern can occur in some people with alopecia areata.
research Gene and tonic: Sonic hedgehog disruption and fetal alcohol syndrome
research Mimicking Hair Disorders by Genetic Manipulation of Organ-Cultured Human Hair Follicles
Scientists can mimic hair disorders by altering genes in lab-grown human hair follicles, but these follicles lack some features of natural ones.
research Complex Regional Pain Syndrome Type I : measurements and treatment
CRPS I is complex, linked to immune and nerve issues, and needs comprehensive treatment.
research Detection of five substitution TPO mutations in Polycystic Ovary Syndrome (PCOS) and thyroid hormones disturbance patients
Five different TPO gene mutations were found in PCOS patients with thyroid hormone issues.
research Genetic analysis does not confirm non-classical congenital adrenal hyperplasia in more than a third of the women followed with this diagnosis
Over a third of women thought to have non-classical congenital adrenal hyperplasia didn't have it confirmed by genetic tests.
research WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
research Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA
Ancient DNA blocks are still present in human genomes, possibly due to advantages they provide.
research Coexisting trichorrhexis nodosa and pili annulati: a case report of hair shaft abnormalities in a syrian family
A 23-year-old Syrian woman has two rare hair disorders, and avoiding hair treatments plus using vitamins and minoxidil may help.
research Structure and site of expression of a murine type II hair keratin
A specific type II hair keratin was identified and found in hair cortex and tongue cells.
research Hair‐thread tourniquet syndrome
A hair strand caused a rare case of limb strangulation in a teenage girl with autism, and the condition is not always linked to child abuse.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research Hair cross-sectioning in uncombable hair syndrome: An easy tool for complex diagnosis
The document suggests finding a simpler, cheaper way to diagnose Uncombable Hair Syndrome.
research Linkage of Monilethrix to the Trichocyte and Epithelial Keratin Gene Cluster on 12q11-q13
research Corkscrew Hairs in Trichoscopy of Trichotillomania
Corkscrew hairs can help diagnose trichotillomania.
research A Rare association of Mauriac syndrome and Van-Wyk Grumbach syndrome found in a young Saudi girl with poorly controlled type 1 Diabetes and Hypothyroidism: A Case Report and Brief literature review
A young Saudi girl with uncontrolled type 1 diabetes and hypothyroidism had two rare conditions, Mauriac syndrome and Van Wyk–Grumbach syndrome.
research Alopecia Areata is associated with MICA and an extended HLA haplotype
Certain genes are linked to the risk of developing Alopecia Areata.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research NonClassic Congenital Adrenal Hyperplasia
NonClassic Congenital Adrenal Hyperplasia is a less severe form of a genetic disorder affecting adrenal gland function.
research Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research Histopathological Analysis on keratin2-6 g Expression in Hair Mutant Mouse Hague
Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
research Relative Prevalence of Different Androgen Excess Disorders in 950 Women Referred because of Clinical Hyperandrogenism
Most women referred for excess male hormone symptoms had polycystic ovary syndrome (PCOS), with other conditions being less common.
research Hair casts or pseudonits
Hair casts can be mistaken for lice, causing unnecessary stress.
research Phenotypic modulation of human hair matrix cells (trichocytes) by environmental influence in vitro and in vivo.
Human hair cells can change based on their environment, especially interactions with certain skin cells.
research Hair disorders associated with autoimmune connective tissue diseases
research Inherited Hair Disorders
Genetic hair disorders can indicate other hidden health problems.
research Phylloid terminal hair nevus: A unique clinical entity
A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.
research Pitfalls of PCR-Based Strategy for Genotyping Cre-Loxp Mice
PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.
research Isolation and Characterization of Human Repetin, a Member of the Fused Gene Family of the Epidermal Differentiation Complex
Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.