research Sweet Syndrome as the Presenting Symptom of Relapsed Hairy Cell Leukemia
Sweet syndrome can be the only sign of hairy cell leukemia relapse.
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600-630 / 1000+ results research Post-partum pituitary insufficiency and livedo reticularis presenting a diagnostic challenge in a resource limited setting in Tanzania: a case report, clinical discussion and brief review of existing literature
Early diagnosis and hormone therapy can significantly improve outcomes for post-partum pituitary insufficiency in resource-limited settings.
research Rapunzel Syndrome: A Rare Cause of Biliary Obstruction
Trichobezoars can cause serious health issues like biliary obstruction, and treatment includes surgery and therapy to prevent recurrence.
research Unveiling the Potential of Dermoscopy in Diagnosing Netherton Syndrome
Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
research Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research Testosterone replacement in 49,XXXXY syndrome: andrological, metabolic and neurological aspects
Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
research Graham-Little-Piccardi-Lasseur Syndrome: A Case Report
Early detection of Graham-Little-Piccardi-Lasseur syndrome is key for better management.
research P-12 ACTH-INDEPENDENT CUSHING SYNDROME WITH INCONCLUSIVE ADRENAL CT SCAN RESULTS
Ketoconazole improved symptoms of ACTH-independent Cushing syndrome despite inconclusive initial scans.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research Rothmund‐Thomson syndrome type 2 – a rare cause of chronic wounds
Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
research Macrophage activation syndrome in a patient with systemic lupus erythematosus
A patient with lupus experienced a condition where their immune cells became overactive.
research 8273 ACTH-Dependent Cushing's Syndrome Due To Metastatic Cervical Cancer: A Case Report
ACTH-dependent Cushing's syndrome linked to metastatic cervical cancer is rare and has high risks.
research Metabolic disease with autoimmune phenomena: 2 cases of SLE-like disease in young children diagnosed with lysinuric protein intolerance
Two children with lysinuric protein intolerance showed symptoms similar to lupus.
research The Case Files
Early diagnosis, decontamination, and supportive care are crucial for managing acute radiation syndrome.
research Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency
The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
research Successful management of Netherton syndrome using IVIG and dupilumab: A case report
A young boy with Netherton syndrome improved significantly using IVIG, dupilumab, and dietary changes.
research Dermatological aspects of the S2k guidelines on Down syndrome in childhood and adolescence
Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
research Hypotrichosis in a child with olmsted syndrome
A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
research Tick‐Bite Alopecia of the Scalp in a Child: Case Report and Differential Diagnosis With Alopecia Areata and SENLAT
Tick-bite alopecia can be identified by a bite-centered mark and treated with topical steroids, while SENLAT needs doxycycline.
research A Case Report of Werner’s Syndrome With a Novel Mutation From India
A new genetic mutation causing Werner's syndrome was found in an Indian man.
research 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
research Trichoscopy in Unveiling the Triad of Netherton Syndrome
Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.
research Treatment-resistant Schizophrenia and Global Cortical Atrophy in a Patient with Turner Syndrome
A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.
research Short Anagen Syndrome: A Case Study
The document concluded that certain clinical signs and hair growth tests help diagnose Short Anagen Syndrome.
research Male polycystic ovarian syndrome phenotype: a meta-analysis of endocrine-metabolic dysregulation in fathers and brothers of PCOS-affected women
Male relatives of women with PCOS show similar health issues, suggesting a male version of the condition.
research An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery
Early diagnosis and multidisciplinary care, including orthopedic surgery, can prevent long-term disability in IFAP syndrome.
research Mania in Hyperandrogenism, Insulin Resistance, and Nigricans Acanthosis Syndrome
Stopping birth control pills may have triggered a manic episode in a woman with HAIR-AN syndrome.
research Diagnostic challenge: Loose anagen hair syndrome
The study concludes that Loose Anagen Hair Syndrome is a benign condition that usually improves with age but can be hard to diagnose and stressful for the family.
research Pityriasis rubra pilaris: a rare inflammatory dermatosis
An 18-year-old woman was diagnosed with a rare skin condition called Pityriasis rubra pilaris.
research Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
Loss of Msx2 function causes eye development issues similar to Peters anomaly.