research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
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360-390 / 1000+ results research Disorders of Hair Pigmentation
Hair color is determined by melanin and can be affected by genetic conditions like albinism.
research Botanical Extract Combined with Minoxidil Improves Hidrotic Ectodermal Dysplasia Caused by p.G11R Mutations: A Case Report
Botanical extracts and Minoxidil improved hair condition in a boy with a genetic disorder.
research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
research The Cycle Characteristics and Outcomes of Infertile Nonclassic 21-Hydroxylase Deficiency Patients Undergoing Ovarian Stimulation for In Vitro Fertilization
Women with nonclassic 21-hydroxylase deficiency can have successful pregnancies through IVF, with certain factors affecting their chances.
research Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome
The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
research Acquired Acrodermatitis Enteropathica in an Infant
An infant with a zinc deficiency skin disorder improved with zinc treatment.
research Clinical, Biochemical, and Mutational Findings in Biotinidase Deficiency Among Malaysian Population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research A Novel PLEC Nonsense Homozygous Mutation (c.7159G > T; p.Glu2387*) Causes Epidermolysis Bullosa Simplex with Muscular Dystrophy and Diffuse Alopecia: A Case Report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research Effects of Pre- and Post-Pubertal Dihydrotestosterone Treatment on Penile Length in 5α-Reductase Type 2 Deficiency
Dihydrotestosterone treatment can help penis growth in boys with 5α-reductase deficiency but doesn't fully normalize size after puberty.
research Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity
Genetic testing is crucial for diagnosing rare hair loss disorders.
research Causes and Management of Hypertrichosis
research Hair Loss in Children
Children's hair loss can be caused by many factors, including autoimmune diseases, emotional stress, genetics, and infections, with treatment and prognosis varying.
research Identification of Novel Mutation in the HR Gene Responsible for Atrichia with Papular Lesions in a Pakistani Family
Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
research 46,XY Disorders of Sex Development Due to Type 2 5-Alpha Reductase Deficiency in Three Siblings: A Case Report from a Low-Resource Setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
research A Recently Characterized, Underdiagnosed Cause of Female Androgenetic Alopecia and Polycystic Ovarian Syndrome: Non-Classical 21 Hydroxylase Deficiency
Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
research Hereditary Vitamin D-Resistant Rickets in Lebanese Patients: The p.R391S and p.H397P Variants Have Different Phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research Monilethrix of the Scalp from Almost Normal Aspect to Total Alopecia: Variable Intrafamilial Expressiveness
Monilethrix causes different levels of hair loss in family members.
research Monilethrix: A Case Report Imaged by Trichoscopy, Reflectance Confocal Microscopy, and Histopathology
Advanced imaging techniques are crucial for accurately diagnosing Monilethrix, a rare hair disorder.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
research FGF5 Is a Crucial Regulator of Hair Length in Humans
FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
research Alymphoid Cystic Thymic Dysgenesis - FOXN1 Gene Mutation: A Rare Case Report of Two Siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
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 Treatment of Monilethrix with Oral Minoxidil
Oral minoxidil shows promise in treating monilethrix-related hair loss.
research Hepatitis C-Related Mixed Type Vitiligo in a Patient with Ivemark Syndrome
A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.
research A Study on the Efficacy of Oral Zinc Therapy for the Treatment of Acrodermatitis Enteropathica
Oral zinc therapy is effective for treating acrodermatitis enteropathica.
research Identification of a Recurrent Nonsense Mutation in HR Gene Responsible for Atrichia with Papular Lesions in Two Kashmiri Families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Woodhouse-Sakati Syndrome: A Case Study of Three Saudi Sisters
The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.