research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
A rare gene variant causes hair and nail issues in a family.
Search
for
Sort by
Research
900-930 / 1000+ results 
research Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case
The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
research Genetics of Structural Hair Disorders
The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
research Hypopigmentation in frontal fibrosing alopecia
FFA patients have fewer melanocytes and thinner skin compared to others.
research Functional Characterization offer-ts, a Temperature-Sensitive FERONIA Mutant Allele That Alters Root Hair Growth
The fer-ts mutation in plants prevents root hair growth at high temperatures.
research A woman with iatrogenic androgenetic alopecia responding to finasteride
EF and PXE not closely related.
research Clinicopathological insights into the phenotypic variation of autosomal recessive hypotrichosis/wooly hair by c.736T>A LIPH mutation
The conclusion is that the variation in hair thinness in patients is mostly due to the amount of underdeveloped hairs, and treatments that thicken fine hairs might work for those with mild to severe conditions.
research Solitary fibrofolliculoma: a retrospective case series review over 18 years
The conclusion is that surgical removal of solitary fibrofolliculoma is effective with no relapses, and diagnosis requires a biopsy due to varied symptoms.
research Trichomegaly in a 3-Year-Old Girl with Alopecia Areata
A young girl developed unusually long eyelashes with a hair loss condition without other health issues or medication causes.
research Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
research More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
research Trichoscopy in Hair Shaft Disorders
Trichoscopy is a useful tool for diagnosing hair disorders without pulling out hair.
research Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
research A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
The new model helps understand and develop treatments for genetic skin disorders like AEC.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research Merkel cell differentiation in trichoblastoma
Trichoblastomas may mimic fetal skin development by having many Merkel cells, unlike adult skin.
research Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder
Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
research 1388 Clinicopathological characteristics of fibrosing alopecia in a pattern distribution: A single-center, retrospective study
The study suggests fibrosing alopecia in a pattern distribution has distinct features and may vary by race.
research Patients with Compound Heterozygous Mutations in Forkhead Box N1 have a Severe Immunodeficiency while Maintaining Normal Skin and Hair Development
Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.
research BMP4 and nuclear laminC orchestrate a expression of AHF/Trichohyalin molecule, a key modulator of keratin intermediate filaments in the hair follicle
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
research BG01 Confirming small nuclear ribonucleoprotein polypeptide E as a cause of nonsyndromic hypotrichosis
The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
research A case of pili torti in a young adult domestic short-haired cat
A young cat had a rare hair condition with twisted hair shafts but stayed healthy.
research Acquired trichomegaly with topiramate
A woman's eyelashes grew thicker and longer after taking topiramate, but returned to normal when she stopped the medication.
research Successful topical minoxidil treatment for hair density and length in trichorhinophalangeal syndrome type 1
Minoxidil improved hair growth in a child with a rare genetic disorder.
research Banded Scalp Hair with an Unusual Glistening Appearance in a Teenager: A Quiz
A teenager's hair with alternating white and dark bands, known as Pili annulati, is a genetic condition that is usually harmless and often considered attractive.
research Refractory alopecia universalis associated with dermatomyositis successfully treated with tofacitinib
A medicine called tofacitinib worked to treat a hair loss condition linked with a muscle and skin disease.
research Mutation des menschlichen hairless -Gens bei Atrichia universalis
A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.