research HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
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570-600 / 1000+ resultsresearch Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research Systemic Tofacitinib Treatment in Pediatric Patients with Resistant Alopecia Areata
Tofacitinib is a safe treatment for hair loss in children, but long-term use may be needed for best results.
research Localized Acquired Alopecia over the Mental Area of Chin
A 12-year-old boy has a rare, harmless hair loss on his chin with no need for treatment.
research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research Tumid Lupus Erythematosus Presenting as Patchy Alopecia: A Discussion of Alopecia Associated With Lupus Erythematosus
A patient with patchy hair loss was successfully treated for Tumid Lupus Erythematosus after other treatments failed.
research Unusual Presentation of Rapunzel Syndrome in an 8-Year-Old Girl
Rapunzel syndrome can show vague symptoms and needs long-term psychiatric care to prevent recurrence.
research Recurrent bacterial vaginosis and Netherton's syndrome
Netherton's syndrome can cause frequent bacterial infections beyond just skin issues.
research Netherton's syndrome and ichthyosis linearis circumflexa.
Netherton's syndrome may have a familial link and doesn't always include atopy.
research A Case of Cronkhite-Canada Syndrome Involving the Entire Gastrointestinal Tract
Prednisolone and Bactrim improved symptoms in a woman with Cronkhite-Canada syndrome.
research Pattern hair loss distribution: a novel presentation for alopecia areata
Tofacitinib helped regrow hair in a teen with a unique pattern of alopecia areata.
research Successful Treatment of Refractory Alopecia Areata Universalis and Psoriatic Arthritis, But Not of Plaque Psoriasis with Tofacitinib in a Young Woman
Tofacitinib helped a young woman's severe hair loss and arthritis but not her plaque psoriasis.
research A Case of Alopecia Totalis with Lichen Planus Hypertrophicus Responded Excellently to Oral Tofacitinib-An Observation
Tofacitinib effectively improved hair regrowth and skin condition in a woman with alopecia totalis and lichen planus hypertrophicus.
research Junctional Epidermolysis Bullosa, Generalized Intermediate Type
research Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
research 1421 Primary cutaneous diffuse large B-cell lymphoma–leg type masquerading as a mucocele
An elderly woman's upper lip lump, thought to be a mucocele, was actually a rare type of lymphoma usually found on legs, treated successfully with chemotherapy and radiation.
research Recombinant Thrombomodulin Used to Successfully Treat Cronkhite-Canada Syndrome with Disseminated Intravascular Coagulation due to Sepsis in a Compromised Patient
Recombinant thrombomodulin can effectively treat severe complications in Cronkhite-Canada syndrome.
research The Friar Tuck sign in trichotillomania
An 8-year-old boy with hair-pulling disorder had a bald patch that was confirmed not to be a fungal infection and was treated with therapy.
research Dermatoscopy case of the month: Trichodysplasia spinulosa
A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
research A case of localized uncombable hair syndrome
A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
research A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
research Cronkhite-Canada syndrome associated withmyelodysplastic syndrome
A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.
research Hair-thread tourniquet syndrome of labia: A case report
Removing hair wrapped around the labia quickly prevents serious tissue damage.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Hair tourniquet syndrome of penis: A rare situation in boys with serious complications if not recognized
Hair wrapped tightly around a boy's penis can cause serious damage if not treated quickly.
research GREASY SCALING PITYRIASIS AMIANTACEA AND ALOPECIA: A SYNDROME IN SEARCH OF A CAUSE
The cause of the syndrome with scalp scaling and hair loss is unknown.
research Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
research CPC12 Coinheritance of BRCA2 and CYLD germline pathogenic variants associated with targetable metastatic malignant cylindroma
Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
research Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings
Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.