research A RARE PRESENTATION OF AN OVERLAP CONNECTIVITY AS PURPURA FULMINANS: A CASE REPORT
Purpura fulminans can signal underlying autoimmune disorders, not just infections.
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780-810 / 1000+ results research A linear and reticulate crusted keratotic papulopustular eruption: a rare presentation of PRIDE (Papulopustules and/or paronychia, Regulatory abnormalities of hair growth, Itching, and Dryness due to Epidermal growth factor receptor inhibitors) complex
A rare skin reaction from cancer treatment was successfully managed with topical treatments and antihistamines.
research Folliculosebaceous Cystic Hamartoma with Spindle Cell Lipomatous and Neural Components
A woman had a unique skin growth with hair follicle, oil glands, fat cells, spindle cells, and nerve fibers.
research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
research Generalised Glucocorticoid Resistance
Generalized glucocorticoid resistance causes hormone imbalances and varied symptoms due to gene mutations.
research Hutchinson-gilford progeria syndrome and its relevance to cardiovascular diseases and normal aging.
Research on Hutchinson-Gilford progeria syndrome could help understand normal aging and heart disease.
research Superficial Epidermolytic Ichthyosis—Hypertrichosis as a Clue to Diagnosis
Hypertrichosis (excessive hair growth) can help diagnose superficial epidermolytic ichthyosis.
research Atrichia with papular lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
research Striking White Hair
Poliosis causes white hair patches due to lack of melanin.
research A New Case of Isolated Trichothiodystrophy
A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
research Woodhouse-Sakati Syndrome with Unique Unreported Previous Findings
Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
research A homozygous single T deletion found in the GGCX gene with PXE-like phenotypes
A gene mutation worsens skin irritation in mice due to a lack of certain fats.
research Polyglandular autoimmune syndrome type III with a prevalence of cutaneous features
PAS III can cause multiple autoimmune diseases with noticeable skin issues.
research Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research Navigating Rhupus Complexity
Rhupus is a complex syndrome that is hard to diagnose due to unclear clinical criteria.
research Trimethoprim-Induced Aseptic Meningitis
Trimethoprim-sulfamethoxazole can cause aseptic meningitis, especially in people with certain health conditions.
research Hair fragility (trichorrhexis nodosa) in alopecic Pomeranian dogs
Trichography is important for diagnosing hair fragility in Pomeranian dogs with hair cycle issues.
research Philological Obfuscation
The author believes that giving medical conditions official names can sometimes overwhelm or scare patients.
research Viral-associated trichodysplasia in patients who are immunocompromised
Immunocompromised patients can develop skin and hair issues due to a virus.
research Ectodermal Dysplasia: Variable Expressions
Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
research Poster Presentations
Hair disorders are complex and varied, with diverse treatments available.
research Incidental Merkel Cell Carcinoma Encountered During Mohs Surgery
research Abstract 1219: Defective catagen entry in EGFR deficient skin precedes cutaneous inflammation
EGFR deficiency in skin causes hair follicle issues and inflammation.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes
Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
research ODP021 A Feminizing Adrenocortical Carcinoma Presenting with Marie-Antoinette Syndrome
A man's rare adrenal tumor caused feminization and white hair, was removed surgically, and improved after treatment.
research Frontal fibrosing alopecia in association with Sjögren's syndrome: more than a simple coincidence
Frontal Fibrosing Alopecia may be linked to autoimmune diseases like Sjögren's syndrome.
research 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review
No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
research DEVELOPMENT OF A DESMOCOLLIN-3 ACTIVE MOUSE MODEL RECAPITULATING HUMAN ATYPICAL PEMPHIGUS
Anti-Desmocollin 3 antibodies can cause atypical pemphigus symptoms.