research Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis
Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
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750-780 / 1000+ results research Building Models for Keratin Disorders
Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
research Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
research A retrospective review of hyperaesthetic leucotrichia in horses in the USA
Hyperaesthetic leucotrichia in horses causes painful, recurring skin lesions and hair color changes, especially in Arabian and American paint horses.
research A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions
A new gene mutation causes a rare type of hair loss.
research Lichen planopilaris in 24 African American women
Lichen planopilaris should be considered in diagnosing scarring hair loss in Black women.
research Depletion of Gsdma1/2/3 alleviates PMA-induced epidermal hyperplasia by inhibiting the EGFR–Stat3/Akt pathway
Removing Gsdma1/2/3 genes reduces skin cell overgrowth by blocking a specific cell pathway.
research 129 Utilizing Polygenic score in predicting the disease activity and arthritis in psoriasis patients
Polygenic Score can help predict severe psoriasis and psoriatic arthritis.
research Autoimmune polyglandular syndrome type 4 – case report
Patients with one autoimmune disease should be checked for other autoimmune disorders.
research LP-161 Tjalma syndrome (Pseudo-Pseudo Meigs Syndrome): polyserositis with increased CA-125 in patients with systemic lupus erythematosus
Tjalma Syndrome is a rare condition in people with lupus, causing fluid buildup and high CA-125 levels, but not due to tumors.
research Comorbid conditions in lichen planopilaris: A retrospective data analysis of 334 patients
People with Lichen planopilaris are more likely to have certain autoimmune and endocrine disorders but less likely to have conditions like allergies and diabetes.
research Nevus lipomatosus cutaneous superficialis with perifollicular fibrosis.
A rare skin condition in a baby showed unusual fat and hair follicle changes.
research G136 An unusual case of alopecia in a toddler
A 2-year-old boy with a rare type of lupus causing hair loss improved with oral steroids.
research Coexistence of frontal fibrosing alopecia with lichen planus pigmentosus
Frontal fibrosing alopecia can occur with lichen planus pigmentosus, needing careful diagnosis and treatment.
research Genetics and other factors in the aetiology of female pattern hair loss
Female pattern hair loss has unclear causes, possibly involving genetics, hormones, and environment, and needs better treatments.
research Clinical case of Vogt–Koyanagi–Harada syndrome
Early treatment with corticosteroids improved her eye condition significantly.
research Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation
Airway issues can occur in Conradi–Hünermann–Happle syndrome and can be managed with minimally invasive procedures.
research Distinguishing histopathologic features of acantholytic dermatoses and the pattern of acantholytic hypergranulosis
Different skin diseases show unique patterns of skin cell separation, cell death, and granular layer changes.
research Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report
Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
research Nevus psiloliparus: Newly described histopathological features from transverse sections
Nevus psiloliparus lacks mature hair follicles but keeps other skin structures intact.
research Cronkhite-Canada syndrome: Report of an unusual case
The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.
research Pruritic urticarial papules and plaques of pregnancy
The skin condition PUPP usually gets better on its own after giving birth and is unlikely to happen again in future pregnancies.
research Primary Essential Cutis Verticis Gyrata: A Case Report with a Review of Literature
Primary essential CVG is a rare, benign scalp condition with treatment focusing on symptom management and hygiene.
research Does a male polycystic ovarian syndrome equivalent exist?
Early onset baldness in men may indicate a condition similar to PCOS, linked to heart disease, diabetes, and prostate issues.
research Cirmcumscribed juvenile pityriasis rubra pilaris in a 5-year-old-girl treated with topical keratolytic and steroid
A 5-year-old girl with a rare skin disorder was effectively treated with skin creams instead of oral medication.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research TRICHOSTASIS SPINULOSA OR PINSELHAAR
Trichostasis spinulosa is a rare skin condition with hair-filled plugs in hair follicles.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research Clinical Description of Frontal Fibrosing Alopecia with Concomitant Lichen Planopilaris
Some women with Frontal Fibrosing Alopecia also have Lichen Planopilaris, which can lead to more symptoms and affect hair outside the scalp.