research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
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research Regeneration of skin appendages and nerves: current status and further challenges
Progress has been made in skin and nerve regeneration, but more research is needed to improve methods and ensure safety.
research Disturbed Keratinocyte Differentiation in Transgenic Mice and Organotypic Keratinocyte Cultures as a Result of Spermidine/Spermine N1-Acetyltransferase Overexpression
Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.
research Post-Exposure Syndromes as State-Space Trapping: A set-theoretic perspective on PSSD and the post-exposure family.
Post-exposure syndromes are persistent conditions caused by past exposures, needing unique interventions.
research Biotinidase deficiency: a survey of 10 cases.
Biotin treatment improves symptoms of biotinidase deficiency, but some neurological damage may be permanent.
research Hutchinson-Gilford Progeria Syndrome: Premature Aging
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
research Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
research Optic Nerve Atrophy and Hair Loss in a Young Man
A young man had vision loss, hair loss, and other symptoms, but tests showed mostly normal results except for slightly high protein in spinal fluid.
research Hutchinson-Gilford progeria syndrome - A brief introduction
Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
research Methods for Treating Disorders of Tissue Function by Restoration of Morphogenetic Field Connectivity: General Prior Art Disclosure
Restoring cell communication can treat tissue disorders.
research Methods for Treating Disorders of Tissue Function by Restoration of Morphogenetic Field Connectivity: General Prior Art Disclosure
Restoring cell communication can treat tissue disorders.
research Das Trichorhinophalangealsyndrom
Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
research 증례 : 모발의 황 농도 감소를 보인 모발유황이영양증
A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
research Clinical Case Notes. Tamoxifen optic neuropathy
A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.
research Pluripotent Hair Follicle Neural Crest Stem-Cell-Derived Neurons and Schwann Cells Functionally Repair Sciatic Nerves in Rats
research Morgellon's syndrome. Evidence of a microorganism causing an unexplained dermopathy
Dr. Conroy's book on Morgellon's disease lacks credible evidence and scientific validity.
research The mind-body problem; three equations and one solution represented by immaterial-material data
The mind and body don't directly interact; the mind acts as an interface linking abstract and physical data.
research The relationship between Homeostatic Model Assessment Insulin Resistance (HOMA-IR) values and pilonidal sinus disease in female adolescents: A retrospective study
High insulin levels may increase the risk of pilonidal sinus disease in female teens.
research Perspectives of Kennedy's disease
Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
research Post-Exposure Syndromes as State-Space Trapping: A set-theoretic perspective on PSSD and the post-exposure family.
Post-Exposure Syndromes are persistent conditions caused by past exposures, needing unique interventions.
research Local Artemis dysfunction may be one molecular mechanism for androgenetic alopecia via telomere shortening
Artemis dysfunction might cause hair loss through telomere shortening.
research A case of localized uncombable hair syndrome
A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
research Keratinisation status and cytokeratins of the human Meibomian gland epithelium
Hyper-keratinisation in Meibomian glands contributes to gland dysfunction.
research Pathogenesis of pili annulati
Pili annulati is caused by a protein metabolism disorder affecting hair structure.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research Characterization ofCDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy
CDH3-related disease causes worsening eye and hair issues.
research Hair Tourniquet Syndrome of the Toe: Report of 2 New Cases
Two babies needed surgery to remove hair tightly wrapped around their toes to prevent serious injury.
research Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
research Diagnostic criteria for enduring sexual dysfunction after treatment with antidepressants, finasteride and isotretinoin
The document sets criteria for diagnosing long-term sexual dysfunctions caused by certain medications.
research Mitochondrial dysfunction in metabolic syndrome and inflammatory skin disease
Mitochondrial dysfunction links metabolic syndrome and inflammatory skin diseases, suggesting targeted therapies and lifestyle changes.