research The Role of Tight Junctions in Skin Barrier Function and Dermal Absorption
Tight junctions are key for skin protection and controlling what gets absorbed or passes through the skin.
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60-90 / 1000+ results research Expanding Phenotype of Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis Caused by FAM111B Mutations: Report of an Additional Family Raising the Question of Cancer Predisposition and a Short Review of Early-Onset Poikiloderma
The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
research Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth, and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research Characterization of X-Linked Hypohidrotic Ectodermal Dysplasia Hair and Sweat Gland Phenotypes Using Phototrichogram Analysis and Live Confocal Imaging
People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
research Differential Diagnosis of Hair Loss in Children
The document concludes that early diagnosis and treatment are crucial for children with hair loss to prevent permanent damage, although not all conditions can be effectively treated.
research A Rare Case of Woolly Hair with Unusual Associations
The document reports a unique case of woolly hair with a combination of conditions not previously seen together.
research Topical Treatment of Eyebrow Hypotrichosis with Bimatoprost 0.03% Solution: Case Report and Literature Review
Bimatoprost 0.03% solution effectively promotes eyebrow growth.
research Disease Causing Homozygous Variants in the Human Hairless Gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity
A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
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 Coexistence of Woolly Hair and Monilethrix: A Case Study
Two sisters have rare hair disorders causing short, fragile, kinky hair.
research A Novel Homozygous Variant in the DSP Gene Underlies the First Case of Non-Syndromic Form of Alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research The Genetics of Hair Shaft Disorders
The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
research Finding Makhubu: A Morphological Forensic Facial Comparison
The study could not confirm if Victor Vinnetou was Mbuyisa Makhubu and suggested more evidence, like DNA tests, is needed.
research Response to: Rethinking Biotin Therapy for Hair, Nail, and Skin Disorders
The authors agree that biotin may help certain hair disorders but lacks evidence for use in healthy people and call for more research.
research Diagnostic Challenges in Determining Alopecia Areata
Diagnosing alopecia areata is challenging and requires careful examination and various tests to distinguish it from other hair loss types.
research Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research A Novel Mutation in ST14 at a Functionally Significant Amino Acid Residue Expands the Spectrum of Ichthyosis-Hypotrichosis Syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Atrichia With Papular Lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research Netherton's Syndrome: A Syndrome of Elevated IgE and Characteristic Skin and Hair Findings
Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
research Alopecia and Associated Toxic Agents: A Systematic Review
Thallium, mercury, selenium, and colchicine strongly cause hair loss.
research A Case of Familial Trichomegaly with Synophrys in Association with Loose Anagen Syndrome
A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.
research A New Clinical Variant of Hereditary Localized Alopecia: Report of a Chinese Family Mapped to Chromosome 2p25.1–2p23.2
A new type of hereditary hair loss in a Chinese family is linked to chromosome 2p25.1–2p23.2.
research Co-Occurrence of Monilethrix and Type 1 Diabetes Mellitus
The girl has both monilethrix and Type 1 diabetes, but no link between the two conditions is known.
research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research Hair Restoration Surgery in Asians
Asian hair restoration surgery requires different methods due to the unique characteristics of Asian hair, such as its sparseness and coarseness.
research CDH3 Gene Related Hypotrichosis and Juvenile Macular Dystrophy: A Case with a Novel Mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Sparse Hair in a Female Toddler
Iron supplements may reverse premature graying in iron-deficient individuals; ingrown nails are common in diabetics with certain risk factors; topical finasteride may reduce scalp DHT as effectively as oral finasteride; monilethrix treatment is challenging but some medications can help.