research NEW YORK ACADEMY OF MEDICINE, SECTION ON DERMATOLOGY AND SYPHILIS
An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
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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 Case of Cronkhite-Canada Syndrome Presenting with Hematochezia
Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
research Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
Mutations in the SNRPE gene cause hereditary hair loss.
research NETHERTON'S SYNDROME AND ICHTHYOSIS LINEARIS CIRCUMFLEXA
Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.
research E58 The rheumatologic masquerader: a case report on SLE-dermatomyositis-systemic scleroderma overlap syndrome
Early referral to a pediatric rheumatologist and thorough evaluation are crucial for treating complex overlap syndromes effectively.
research Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
research Positional Vertigo and Unilateral Gradual Hearing Loss Following Sleeve Gastrectomy: A Case Report
A woman experienced vertigo and hearing loss after weight loss surgery, possibly due to eustachian tube issues from fat loss around ear muscles.
research Single‐port Endoscopic Removal of Forehead Osteoma: An Otolaryngologist's Procedure
The procedure effectively removes forehead osteomas with minimal scarring and no complications.
research Crystalline Cataract and Uncombable Hair
The study found no common cause for a girl's crystalline cataract and uncombable hair, suggesting their co-occurrence might be coincidental.
research Cardiac Amyloidosis and Aortic Stenosis: When to Consider it and How to Treat it?
When treating older patients with both heart valve disease and heart muscle disease, doctors should create personalized treatment plans that address both conditions.
research A case of neurosyphilis with inflammation of the oral mucosa
The woman was cured of neurosyphilis after treatment with penicillin.
research Case Report: Triple autoimmune overlap: rheumatoid arthritis, systemic lupus erythematosus, and hypereosinophilic asthma with systemic manifestations
Timely treatment of eosinophilic asthma in rheumatic disease patients can prevent organ damage.
research Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
research A Congenital Hair Defect: Trichoschisis With Alternating Birefringence and Low Sulfur Content
research Nevus comedonicus syndrome: a case associated with multiple basal cell carcinomas and a rudimentary toe
A man with nevus comedonicus syndrome had multiple skin issues, including basal cell carcinomas, which improved with treatment.
research ODP292 A Xanthomatous Hypophysitis: Always Think Twice Before Pituitary Resection.
Always consider xanthomatous hypophysitis before deciding on pituitary surgery.
research 20th Annual Symposium of the British Society of Paediatric Dermatology, 11-12 November 2005, Newcastle upon Tyne, U.K.
The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
research Diffuse Gastrointestinal Polyposis With Skin, Hair, and Nail Changes
A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.
research ЭКСПЕРИМЕНТАЛЬНОЕ ВОСПАЛЕНИЕ ПОСЛЕ ХИРУРГИЧЕСКОЙ ТРАВМАТИЗАЦИИ ПЕРЕГОРОДКИ НОСА И ДИСБАЛАНС ВЕГЕТАТИВНОЙ НЕРВОНОЙ СИСТЕМЫ
Inflammation from nasal surgery temporarily increases sympathetic nervous system activity, but balance is restored within a week.
research The IVIG treatment response in autoimmune polyendocrine syndromes type 2 with anti-GAD65 antibody-associated stiff person syndrome: a case report and literature review
IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.
research Elkonyxis associated with habit-tic deformity: Two case reports
Elkonyxis, a rare nail condition, improved when patients stopped their nail-picking habits.
research LOS ANGELES DERMATOLOGICAL SOCIETY
The girl has an inflammatory type of scarring hair loss.
research Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research Synaptic processes and immune-related pathways implicated in Tourette Syndrome
The study found that Tourette Syndrome may be linked to certain immune system processes and synaptic signaling.
research Visual Vignette
A 13-year-old boy with Cushing syndrome has high cortisol levels from a pituitary gland issue and underdeveloped sexual characteristics.
research フィナステリド中止後もリビドー消失が持続しPost finasteride syndromeが疑われた1例
research Polyglandular autoimmune syndrome type III with a prevalence of cutaneous features
PAS III can cause multiple autoimmune diseases with noticeable skin issues.
research A Case Report of Cronkhite-Canada Syndrome Complicated by Membranous Nephropathy
Rituximab may be an effective treatment for Cronkhite-Canada syndrome with kidney disease.
research Parry-Romberg Syndrome Augmented by Hyaluronic Acid Filler
Hyaluronic acid filler can safely and effectively improve facial contour in Parry-Romberg Syndrome.