research Familial Dyskeratotic Comedones: A Case Report and Literature Review
Familial dyskeratotic comedones are a rare, benign skin disorder that is hard to treat.
Search
for
Sort by
Research
870-900 / 1000+ resultsresearch Cutaneous manifestations of methylmalonic and propionic acidaemia: a description based on 38 cases
Some children with methylmalonic and propionic acidaemias have skin problems related to their condition and diet.
research Inherited ichthyoses/generalized Mendelian disorders of cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research The atypical ‘hippocampal’ glutamate receptor coupled to phospholipase D that controls stretch‐sensitivity in primary mechanosensory nerve endings is homomeric purely metabotropic GluK2
A special receptor in sensory nerve endings helps control how they respond to stretching.
research Matriptase/MT-SP1 is required for postnatal survival, epidermal barrier function, hair follicle development, and thymic homeostasis
research Decision letter: NuMA-microtubule interactions are critical for spindle orientation and the morphogenesis of diverse epidermal structures
NuMA-microtubule interactions are vital for proper skin structure formation and function.
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 An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
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 A Small Deletion Hotspot in the Type II Keratin GenemK6irs1/Krt2-6gon Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation
The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
research Treatment of cutaneous leiomyomas with botulinum toxin. Case report and review of literature
Botulinum toxin injections effectively relieve pain from cutaneous leiomyomas.
research Regulation of Mitochondrial Oxidative Metabolism by Tumor Suppressor FLCN
The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
research Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research 1431 Skin aging and hair follicle stem cell dysfunction caused by T cells with defective mitochondrial metabolism
Defective T cell metabolism can cause early skin aging and poor hair follicle stem cell function.
research The IVIG treatment response in autoimmune polyendocrine syndromes type 2 with anti-GAD65 antibody-associated stiff person syndrome: a case report and literature review
IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.
research Trichorrhexis nodosa. Clinical and investigative studies
Trichorrhexis nodosa is mainly caused by hair trauma, not a metabolic defect.
research THE INSUSCEPTIBILITY OF C57 BLACK MICE TO POST-IRRADIATION LEUKEMIA, SOME UNREPORTED POST-IRRADIATION CHANGES
CXCL7 is essential for muscle repair by aiding early neutrophil infiltration.
research Identification and characterization of genes for skin and hair disorders
New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
research Eccrine angiomatous hamartoma
The girl's skin condition is benign but challenging to treat due to its size and location.
research Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes
Excessive body hair can signal complex health issues.
research Autoimmune polyendocrine syndrome type 1 a case report from Bangladesh
A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
research Methotrexate-associated lymphoproliferative disorder: Sequential development of angioimmunoblastic T-cell lymphoma-like lymphoproliferation in the lymph nodes and diffuse large B-cell lymphoma in the skin in the same patient
Stopping methotrexate might reverse lymphoma-like conditions in some patients.
research When the algorithm fails and experience wins: An extraordinary trichoscopic case
Thorough hair examination is crucial for accurate diagnosis and treatment.
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 Woodhouse-Sakati Syndrome with Unique Unreported Previous Findings
Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
research 1386 Trichodysplasia spinulosa small T antigen drives ectopic hair follicle development in adult transgenic mice
The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
research 1433 Epithelially derived, mitochondrial MPZL3 negatively regulates murine and human hair follicle cycling
A protein called MPZL3 in mitochondria slows down hair growth and could be a target for treating hair growth disorders.
research Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
research The impact of radial extracorporeal shock wave therapy on the plantar flexor muscle in children with spasticity
Shock wave therapy improved muscle function and movement in children with spastic cerebral palsy.
research Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
Defective protein folding due to a mutation is key in ANE syndrome.