research Birt-Hogg-Dubé Syndrome: Genetic and Clinical Insights
Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
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570-600 / 1000+ resultsresearch Superficial Epidermolytic Ichthyosis—Hypertrichosis as a Clue to Diagnosis
Hypertrichosis (excessive hair growth) can help diagnose superficial epidermolytic ichthyosis.
research Gene Detection in a Family With Monilethrix and Treatment With 5% Topical Minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
research Buschke-Ollendorff Syndrome: Clinical Features and Genetic Insights
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
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 Reversible Myopathy and Ophthalmoparesis After Low-Dose Finasteride Administration for Androgenic Alopecia
Low-dose finasteride may cause muscle weakness and eye issues, but stopping the drug can lead to recovery.
research TRPS1 Mutation Associated with Trichorhinophalangeal Syndrome Type 1 with 15 Supernumerary Teeth, Hypoplastic Mandibular Condyles with Slender Condylar Necks and Unique Hair Morphology
A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
research Two Mouse Mutations Mapped to Chromosome 11 with Differing Morphologies but Similar Progressive Inflammatory Alopecia
Two mouse mutations cause similar hair loss despite different skin changes.
research Dermatopathia Pigmentosa Reticularis with Salzmann’s Nodular Degeneration of Cornea: A Rare Association
An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
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 Epidermolysis Bullosa Simplex: A Paradigm for Disorders of Tissue Fragility
Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
research Dissecting the Microenvironment Around Biosynthetic Scaffolds in Murine Skin Wound Healing
Different scaffold patterns improve wound healing and immune response in mouse skin, with aligned patterns being particularly effective.
research Keratin 71 Mutations: From Water Dogs to Woolly Hair
A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
research Investigation on Microecology of Hair Root Fungi in Androgenetic Alopecia Patients
Malassezia yeast linked to hair loss; ketoconazole helps treat it.
research The Near-Naked Hairless Mutation Disrupts Hair Formation but Is Not Due to a Mutation in the Hairless Coding Region
The near-naked hairless mutation causes hair loss but is not due to a mutation in the hairless gene itself.
research Scalp Microbiome and Sebum Composition in Japanese Male Individuals with and without Androgenetic Alopecia
Men with androgenetic alopecia have different scalp oils and microbes compared to those without.
research Delayed-Onset Pachyonychia Congenita Caused by a Novel Mutation in the V2 Domain of Keratin 6B
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research Hutchinson-Gilford Progeria Syndrome: Report of 2 Cases and a Novel LMNA Mutation in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
research Impairment of Notch 1 Signaling Is a Common Defect in Lesions From Patients With Hidradenitis Suppurativa
Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
research GC-MS Analysis of Rhizome Ethanol Extracts from Curcuma Aeruginosa Accessions and Their Efficiency as Anticancer Agents
Curcuma aeruginosa rhizome extracts show potential as anticancer agents, with varying effectiveness against breast cancer cells.
research ADULT (Acro-Dermato-Ungual-Lacrimal-Tooth) Syndrome: A Case Report from India
Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
research P-19 A Case of Birt-Hogg-Dubé Syndrome Presented With Parathyroid Carcinoma
This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
research Follicular Unit Excision in Hair Restoration Surgery
Follicular Unit Excision (FUE) is a popular, less invasive hair restoration method with high patient satisfaction when done correctly, despite some complications from untrained practitioners.
research A New Technique for Combining Follicular Unit Excision and Linear Strip Harvesting to Optimize Graft Yield: FUE-Linear Ellipse
The FUE-LE technique combines two hair transplant methods to improve graft yield without needing a large team or extra costs.
research A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
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 Hair: More Than Just an Appendage
A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.
research Loose Anagen Syndrome in One Identical Twin Girl
A 2-year-old girl had a hair disorder not shared by her identical twin.
research Loose Anagen Syndrome
Loose anagen syndrome causes easy hair shedding in children, often resolving on its own.
research The De Novo DNA Methyltransferase DNMT3A Is Required for Epidermal Homeostasis
DNMT3A is crucial for healthy skin and hair growth.