research Reticular Erythematous Mucinosis Syndrome
Reticular erythematous mucinosis syndrome can occur with minimal mucin deposition.
Search
for
Sort by
Research
720-750 / 1000+ resultsresearch Netherton Syndrome
A 17-year-old with Netherton syndrome has dry, itchy skin, brittle hair, and high IgE levels, treated with antihistamines and emollients.
research Targeted Inactivation of Gh/Tissue Transglutaminase II
Tgm2 helps stabilize dying cells and aids fibroblast attachment to the extracellular matrix.
research Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity
Genetic testing is crucial for diagnosing rare hair loss disorders.
research Hair Shaft Videodermoscopy in Netherton Syndrome
Trichoscopy can diagnose Netherton syndrome without pulling hairs.
research Alpha Smooth Muscle Actin role in Androgenetic Alopecia Pathogenesis:
Reduced alpha smooth muscle actin may cause hair loss in androgenetic alopecia.
research Adrenoleukodystrophy: A Rare Case Report
Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
research Corneodesmosin: Structure, Function and Involvement in Pathophysiology
Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
research Cisd2 deficiency impairs neutrophil function by regulating calcium homeostasis via Calnexin and SERCA
Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
research Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
research Scleromyxedema with neurologic involvement: Therapy with intravenous immunoglobulin
Umbilical cord blood transplantation improved the boy's symptoms despite complications.
research 921 Generation of a new rodent model of scleroderma
Researchers created a new mouse model for studying scleroderma.
research Monilethrix in pattern distribution in siblings: Diagnosis by trichoscopy
Trichoscopy can diagnose monilethrix, a genetic hair defect causing hair thinning and loss.
research LB1007 Systemic treatment with a KLK5 inhibitor shows efficacy in a murine model of Netherton syndrome
A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
research Diffuse hypotrichosis from early childhood
The girl has a genetic hair condition causing thin hair since childhood.
research First symposium on natural gene therapy of the skin
Natural gene therapy shows promise for treating skin disorders like epidermolysis bullosa.
research Skin manifestations of Bardet–Biedl syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research METTL1-mediated m7G tRNA modification drives papillary thyroid cancer progression and metastasis by regulating the codon-specific translation of TNF-α
Targeting METTL1 may help slow papillary thyroid cancer growth and spread.
research Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.
Early genetic testing and new therapies like secukinumab are crucial for managing Netherton syndrome effectively.
research A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome?
The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
research Complex X chromosome rearrangement associated with multiorgan autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
research Myocyte Androgen Receptor Modulates Body Composition and Metabolic Parameters
Activating androgen receptors in muscle can increase muscle mass and reduce fat.
research Rare Coexistence of Monilethrix and Trichorrhexis Nodosa in a Pediatric Patient: A Case Report
A 6-year-old girl had both monilethrix and trichorrhexis nodosa, causing brittle hair, with minimal improvement from treatment.
research 5 alpha-reductase-2 gene mutations in the Dominican Republic.
Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research Bamboo Hair Syndrome or Netherton Syndrome - A Case Report
Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
research A BIOCHEMICAL MARKER IN A DOMINANT MOUSE TRAIT
The Naked (N) trait in mice is linked to lower glycine and tyrosine in hair proteins.
research 875 A novel animal model of Desmoglein 1 (Dsg1) deficiency reveals an essential role for Dsg1 in epidermal barrier formation
Dsg1 is essential for maintaining a healthy skin barrier in mice.