research Olmsted syndrome
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
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300-330 / 1000+ resultsresearch Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Author response: Smad4 restricts differentiation to promote expansion of satellite cell derived progenitors during skeletal muscle regeneration
SMAD4 is crucial for muscle repair in young adults but not in aged mice.
research Hub biomarkers in ultrasound-guided bladder cancer and osteosarcoma: Myosin light chain kinase and caldesmon
Lower levels of MYLK and CALD1 in bladder cancer and osteosarcoma are linked to worse survival rates.
research Monilethrix, a rare inherited hair shaft disorder in siblings
Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
research [Trichothiodystrophy: a morphological and biochemical study].
Trichothiodystrophy involves brittle hair due to low sulfur amino acids, not a transport defect.
research Is Satoyoshi syndrome an autoimmune disease? A systematic review
Satoyoshi syndrome is likely an autoimmune disease.
research Connective Tissue Disorders
Different connective tissue disorders have unique symptoms and treatments, with varying outcomes and often require ongoing care from a specialist.
research L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy
research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
research A Spontaneous Deletion within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype
A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research PKC downregulation upon rapamycin treatment attenuates mitochondrial disease
Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.
research Protein kinase C is a key target for attenuation of Leigh syndrome by rapamycin
Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research Monilethrix – Case report of a rare disease
Monilethrix causes fragile, patchy hair loss.
research Ichthyosis and Trichothiodystrophy: the Tay and PIBI(D)S Syndromes
Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
research Trichothiodystrophy: an ultrastructural study of the hair follicle
Trichothiodystrophy causes abnormal protein deposits and distortion in hair follicles.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review
The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
research A Case to Tear One's Hair Out: Trichotillomania in Wilson's Disease
A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.
research Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
Specific mutations in a receptor cause facial abnormalities and hair loss.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review
TTD symptoms vary widely, requiring thorough evaluations.
research Madarosis from mitochondriopathy
Mitochondriopathy may cause eyelash loss.