research Misdiagnosis of eosinophilic cystitis: A case report and literature review
Eosinophilic cystitis is often misdiagnosed, but accurate diagnosis and treatment improve outcomes.
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630-660 / 1000+ results research Eruptive vellus hair cysts of the labia majora: detection of openings of the cysts to the epidermis by dermoscopy
Dermoscopy can non-invasively detect eruptive vellus hair cysts on the labia majora.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research Nevus lipomatosus cutaneous superficialis with folliculosebaceous cystic hamartoma
A rare skin growth was successfully removed without recurrence after one year.
research The role of functional variants in the aetiology of polycystic ovary syndrome
A new genetic variant in the EEF2K gene may contribute to polycystic ovary syndrome.
research Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
research O02 Ubiquitomics of CYLD-deficient skin tumours reveals dysregulation of hair follicle keratinocyte processes
CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
research A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
A gene mutation in mice causes skin defects and early death.
research Immunoperoxidase anti-keratin staining of epidermal and pilar cysts
Epidermal cysts come from the skin, while pilar cysts come from hair follicles.
research Cantú syndrome with coexisting familial pituitary adenoma
Cantú syndrome may be linked to pituitary adenomas.
research 464 Phenotypic heterogeneity of epidermolysis bullosa associated with the recurrent pathogenic variant p.(Arg2000Trp) in plectin
The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
research Eruptive vellus hair cysts: report of a pediatric case with partial response to calcipotriene therapy.
A child with eruptive vellus hair cysts showed some improvement with calcipotriene cream.
research Multiple Eruptive Melius Hair Cysts Treated with Carbon Dioxide Laser Vaporization
Carbon dioxide laser treatment effectively removed facial hair cysts without scarring or them coming back.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research Congenital cataract and slowly progressing facial skin lesions in a 5‐year‐old boy
A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
research The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
research One Transgene: Two Outcomes
Modified β-catenin causes different effects in hair and skin cells, leading to cysts or tumors.
research Cylindroma as Tumor of Hair Follicle Origin
Cylindromas likely originate from hair follicle stem cells, not sweat glands.
research 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research Novel mutation in PTCH1 gene in a patient with basal cell nevus syndrome and uterus bicornis
research Steatocystomas: Update on Clinical Manifestations, Diagnosis, and Management
Steatocystomas are harmless skin cysts that can vary in size and may sometimes cause itching or pain.
research Eruptive Vellus Hair Cysts Successfully Treated by Topical Tretinoin 0.01% Cream
Topical tretinoin 0.01% cream effectively treats eruptive vellus hair cysts.
research Persistent Papular Eruption in a Young Adult: Importance of Histopathology in Diagnosing Eruptive Vellus Hair Cysts
research Isolation and characterization of a sheep cysteine-rich cuticle keratin pseudogene
Researchers found a non-functional sheep keratin gene due to mutations.
research An unusual variant of granulomatous adnexotropic cutaneous T-cell lymphoma
A rare type of skin lymphoma was identified, affecting hair follicles and sweat glands.
research CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism
A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
research Dermatitis as a Presenting Sign of Cystic Fibrosis
Recognizing certain rashes can lead to earlier cystic fibrosis diagnosis and better outcomes.
research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research A Rare Case of Cutis Verticis Gyrata with Underlying Cerebriform Intradermal Nevus
A patient with a scalp condition and benign skin tumor experienced hair loss and did not improve with treatment, choosing not to have surgery despite a small cancer risk.
research Exome analysis for Cronkhite-Canada syndrome: A case report
Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.