research Dermoscopic Features of Pili Annulati: Features of PA
Pili annulati causes zebra-striped hair but doesn't affect hair strength or quality of life.
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research Woolly hair generalizado: caso clínico e revisão da literatura
Woolly hair is a rare genetic condition with no effective treatments.
research Differential expression of keratin and keratin associated proteins are linked with hair loss condition in spontaneously mutated inbred mice
Hair loss in certain mice is linked to changes in keratin-related genes.
research The Role of rs6152 Allele and Non-Genetic Factors in Androgenetic Alopecia: A Pilot Study in the Indonesian Local Population
The rs6152 allele is not a good marker for baldness in the Indonesian population, but family history, age, gender, high blood pressure, and body weight are linked to the risk.
research Reviewer #3 (Public Review): CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
CaBP1 and CaBP2 are important for continuous hearing by preventing inactivation of calcium currents in ear cells, with CaBP2 also able to restore hearing when reintroduced.
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 Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother
The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
research Pearly Pinna Papules in a Young Female
The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Hypotrichosis and Hair Loss on the Occipital Scalp
A baby girl has a hair disorder called monilethrix, causing fragile hair that may improve over time.
research Molecular Basis of Hereditary Hair Diseases
Certain gene variants can cause inherited hair diseases, which are important to diagnose and understand for patient care.
research Inherited Hairlessness: A Case Study of Familial Congenital Atrichia
The document concludes that the girl's hairlessness is likely inherited from her parents.
research Evaluation of hair structural abnormalities in children with different neurological diseases
Hair examination helps diagnose rare neurological diseases in children.
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 A rare cause of irrevocable childhood alopecia feigning alopecia universalis: Atrichia congenita with papular lesions
An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
research Coexistence of Woolly Hair and Monilethrix: A Cases Study
Two sisters have rare hair disorders causing short, fragile, kinky hair.
research Clinical report of a Holstein's calf with ichthyosis.
A Holstein calf in Iran with a severe genetic skin disorder was euthanized due to incurable symptoms.
research Hair Shaft Defect in a Teenage Girl: Trichoscopy Saves the Day!
Trichoscopy helped diagnose a teenage girl's hair loss as monilethrix.
research 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research Two females with hair loss
A mother and daughter have a rare genetic hair loss disorder with no effective treatment.
research Common genetic hair shaft abnormalities may be visualized by light and electron microscope
Genetic hair shaft abnormalities can be seen with microscopes and often affect scalp hair.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research Monilethrix – Case report of a rare disease
Monilethrix causes fragile, patchy hair loss.
research Disorders of Keratinization
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
research Odd-Looking Hair and Progressive Alopecia in Mother and Son
Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
research Woolly Hair in Two Siblings
Two siblings have a rare genetic condition causing curly, coarse hair.
research Curly : a new hair defect mutation in the SELH/bc mouse strain
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research Monilethrix with Acitretin
Acitretin improved monilethrix symptoms temporarily, but they returned after stopping treatment.