research Two females with hair loss
A mother and daughter have a rare genetic hair loss disorder with no effective treatment.
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690-720 / 1000+ results research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research Trichoscopic findings in patients with patchy alopecia and its comparison with histopathological diagnosis
Trichoscopy is a useful tool for diagnosing patchy hair loss, reducing the need for biopsies.
research Trichorrhexis Invaginata and Netherton’s Syndrome
Recognizing bamboo hair helps diagnose Netherton’s syndrome.
research Premature termination of hair follicle morphogenesis and accelerated hair follicle cycling in Iasi congenital atrichia (fzica) mice points to fuzzy as a key element of hair cycle control
The fuzzy gene is crucial for controlling hair growth cycles.
research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
research Alopecia in congenital hidrotic ectodermal dysplasia responding to treatment with a combination of topical minoxidil and tretinoin
Hair loss in Clouston's syndrome improved with minoxidil and tretinoin treatment.
research In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
research Clouston’s syndrome: a rare case report
Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
research Serine-rich ultra high sulfur protein gene expression in murine hair and skin during the hair cycle
research Atrichia congenita with papular lesions: A rare cause of pediatric alopecia
This rare genetic disorder causes permanent hair loss and skin bumps from birth.
research Faculty Opinions recommendation of Association of topical minoxidil with autosomal recessive woolly hair/hypotrichosis caused by LIPH pathogenic variants.
research Two different trichoscopic patterns of mid-frontal scalp in patients with frontal fibrosing alopecia and clinical features of androgenetic alopecia
Two trichoscopic patterns found in hair loss: diffuse fibrotic and androgenetic alopecia, affecting treatment choice and regrowth chances.
research Itchy Hair – Trichoknesis: A Variant of Trichodynia or a New Entity?
The conclusion is that "trichoknesis" should be recognized as a separate condition from trichodynia, characterized by itching instead of pain.
research The hair shaft: normality, abnormality, and genetics
Hair microscopy is useful for diagnosing hair disorders, but clear definitions are needed for accurate genetic analysis.
research Dynamic expression of the zinc-finger transcription factor Trps1 during hair follicle morphogenesis and cycling
Trps1 plays a key role in hair follicle development and cycling.
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research Hereditary mucoepithelial dysplasia: unique histopathological findings in skin lesions
The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
research Homo- and heteropolymer self-assembly of recombinant trichocytic keratins
Recombinant keratins can form useful structures for medical applications, overcoming natural keratin limitations.
research Persistent Milia, Steatocystoma multiplex and Eruptive Vellus Hair Cysts: Variable Expression of Multiple Pilosebaceous Cysts within an Affected Family
Milia, SM, and EVHC may be related conditions, not separate ones.
research Syndromes of Severe Insulin Resistance (SSIRs)
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript
A new mutation in the HR gene causes hair loss in a specific family.
research Novel association of trichothiodystrophy with autoimmune thyroiditis and autoimmune hemolytic anemia: A case report
A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
research Trichosporon asteroides: A novel ethiological agent of Kerion celsi in a child
A child's scalp infection was caused by a fungus not previously known to do so, but it was successfully treated.
research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Zinc deficiency or genetic mutations?—A case report of hair heterochromia in the context of MC1R genetic mutations
A boy's hair turned red because of genetic mutations, not lack of zinc.
research Sebaceous Trichofolliculoma -A Case Report-
An 18-year-old boy had a harmless skin nodule near his nose with hair and oil glands inside.
research Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation]
The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
research Congenital Hypotrichosis in Japanese White Strain (JW-NIBS) Rabbits.
A single recessive gene causes sparse hair in certain Japanese White rabbits.