research Increased proliferation of epidermal gamma delta T cells and expression of the transmembrane protein, BST2, in Alopecia areata
BST2 protein and certain T cells increase in early alopecia areata.
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research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
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 Tourniquet syndrome in children (literature review and own observation)
Quick action and prevention are crucial to avoid severe complications from tourniquet syndrome in children.
research Resolution of Waldenström's macroglubulinemia related isolated neutropenia by immunochemotherapy
Immunochemotherapy successfully treated neutropenia in a patient with Waldenström's macroglobulinemia.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research Biotinidase deficiency characterized by skin and hair findings
Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
research Isochromosome Mosaic Turner Syndrome: A Case Report
A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
research A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research Acquired localized hypertrichosis.
A girl grew extra hair in areas where she had insect bites.
research Platelet-Rich Plasma for Hair Loss
research A Case of Cronkhite-Canada Syndrome Presenting with Hematochezia
Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
research Case history: pulmonary embolism/deep vein thrombosis following hair restoration surgery
Hair restoration surgery can lead to serious complications like blood clots.
research Maladies systémiques associées à la cirrhose biliaire primitive : à propos de 10 cas
Early detection and treatment of primary biliary cirrhosis and related autoimmune diseases improve outcomes.
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 Multiple pigmentierte Basaliome im Capillitium bei Myotonia dystrophia Curschmann-Steinert
A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
research Melanotrichoblastoma: A Histopathological Case Report of a Rare Pigmented Variant of Trichoblastoma
A rare pigmented skin tumor called melanotrichoblastoma was diagnosed in a 51-year-old woman.
research Multiplex matrix network analysis of protein complexes in the human TCR signalosome
Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
research Platelets-enriched plasma: experience of application in pediatric practice
PRP therapy shows promise for healing in kids but needs more research.
research Clinical Case Notes. Lipoid proteinosis: a rare disorder with pathognomonic lid lesions
A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
research Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research Generalised Gingival Fibromatosis and Hypertrichosis: A Rare Case of Syndromic Presentation
A 16-year-old girl with gum overgrowth and excessive hair growth had successful gum surgery and healed well.
research Arsenic Trioxide as Effective Therapy for Relapsed Acute Promyelocytic Leukemia
Arsenic trioxide effectively treats relapsed acute promyelocytic leukemia with manageable side effects.
research Biotinidase deficiency – clinching the diagnosis rapidly can make all the difference!
Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.
research Hypersensitivity Reactions to Anticoagulant Drugs
Allergic reactions to blood thinners are rare but can be serious, requiring careful management and alternative treatments.
research A Rare Case of Biotinidase Deficiancy
An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.
research Intraovarian platelet-rich plasma administration could improve blastocyst euploidy rates in women undergoing in vitro fertilization
Platelet-rich plasma may improve embryo genetics in IVF.
research Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome
Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
research Monilethrix: Beaded hair and hypotrichosis in a child
A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.