research Endocrine abnormalities in ring chromosome 11: a case report and review of the literature
Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
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60-90 / 1000+ results research A guide to diagnosis and management of hypertrichosis
Hypertrichosis involves excessive hair growth and needs careful diagnosis and treatment, considering its psychological effects.
research Investigation of Transcriptional Gene Profiling in Normal Murine Hair Follicular Substructures Using Next-Generation Sequencing to Provide Potential Insights into Skin Disease
Hair follicles have a more inactive cell cycle than other skin cells, which may help develop targeted therapies for skin diseases and cancer.
research The Trilogy of Skin Regeneration via Metal-Organic Frameworks Nanomedicine: Precision Management of Refractory Wounds, Pathological Scarring, and Hair Follicle Reactivation
Metal-organic frameworks can help heal wounds, reduce scars, and promote hair growth, but more research is needed.
research Biomedical applications of organoids in genetic diseases
Organoids help study and treat genetic diseases, offering personalized medicine and therapy testing.
research Recent Advances in Understanding of the Etiopathogenesis, Diagnosis, and Management of Hair Loss Diseases
New understanding and treatments for hair loss are improving, but more research is needed.
research LH Induces Murine Hair Loss through TRPC-Medicated Cell Aging Responses: Implications for Female Pattern Hair Loss Pathogenesis
High LH levels cause hair loss by damaging and aging hair follicles.
research Two mutations at KRT74 and EDAR synergistically drive the fine-wool production in Chinese sheep
Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
research A woman with iatrogenic androgenetic alopecia responding to finasteride
EF and PXE not closely related.
research 068 Association of systemic involvement with skin morphology assessed by multiphoton microscopy in pseudoxanthoma elasticum
Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
research Early onset female pattern hair loss: a case–control study for analyzing clinical features and genetic variants
Early onset female hair loss is linked to lower hair density, scalp issues, and certain genetic factors.
research SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.
research Persistent Hypoglycemia and Macrosomia in a Newborn
A newborn with severe low blood sugar due to a genetic issue needed major surgery after standard treatments failed.
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 Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma
New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
research ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
research PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
research An unusual presentation of X-linked adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
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 Exome analysis for Cronkhite-Canada syndrome: A case report
Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
research S2608 A Rare Case of Iron Deficiency Anemia: Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.
research Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
research Inherited Acrodermatitis Enteropathica
Zinc supplements improved the girl's skin and hair condition.
research Acrodermatitis dysmetabolica in an infant with maple syrup urine disease
Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
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 Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Acrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease
A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.