research Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata)
Early skin biopsy is crucial for diagnosing Conradi-Hünermann-Happle syndrome.
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510-540 / 1000+ resultsresearch Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
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 An autopsy case of unicentric C astleman's disease associated with bronchiolitis obliterans
A woman with Castleman's disease died from respiratory failure due to bronchiolitis obliterans.
research A case of pemphigus vulgaris developing after platelet-rich plasma treatment
A woman developed a skin condition called Pemphigus Vulgaris after a treatment to help with hair loss.
research A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb
research P042 A rare case of constrictive pericarditis with co-existing positive COVID-19: probable autoimmune or immunoglobulin related disease
An 80-year-old man with COVID-19 also had constrictive pericarditis, possibly due to an autoimmune or immunoglobulin related disease, and improved after surgery.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research Pemphigus vulgaris in only one of two monozygotic twins
Genetic factors alone might not cause pemphigus vulgaris; other factors like birth complications and puberty may trigger it.
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 Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Early detection and biotin treatment improve outcomes for biotinidase deficiency.
research CD8-positive Lymphocytes in Graft-Versus-Host Disease of Humanized NOD.Cg-Prkdcscid Il2rgtm1Wjl/SzJ Mice
CD8+ T cells play a key role in graft-versus-host disease in certain mice models.
research Parkinsonism with a bovine cough: an unusual presentation.
Sodium valproate can cause low platelets and hair loss.
research Dental manifestations in Vitamin D dependent rickets Type II with Alopecia: a short pictorial case report
Children with Vitamin D-dependent rickets type II may have severe dental issues that need a team of specialists for proper care.
research 474 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
research Late presentation of biotinidase deficiency with acute visual loss and gait disturbance
Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.
research A rash diagnosis
The man's rash, hair loss, and vision issues were due to syphilis, not CMV.
research Primary Cutaneous Rhabdoid Squamous Cell Carcinoma: A Case Report and Review of Molecular Features
Recognizing RSCC is crucial due to its aggressive nature and high risk of poor outcomes.
research VITAMIN D DEPENDENT RICKETS TYPE II (VDR-11). RESPONSE TO PROLONGED THERAPY WITH NOCTURNAL CALCIUM INFUSIONS
Nocturnal calcium infusions improved a boy's severe rickets without causing hair loss.
research Effect of calcium supplementation on bone deformity and histopathological findings of skin papules in a pediatric patient with vitamin D–dependent rickets type 2A: a case report
Calcium supplements improved bone deformities but not skin papules or hair loss.
research BH11 Cutis verticis gyrata associated with chronic traction
Tight hairstyles can cause a rare scalp condition with thick skin folds.
research Valproate-induced thrombocytopenia
Valproic acid can cause low platelet counts, especially at high doses or in elderly patients.
research Spectrum of clinical manifestations of SLE patients from India and its correlation with KIR gene polymorphism
Certain KIR genes in Indian SLE patients are linked to disease severity and could be biomarkers.
research LB1007 Systemic treatment with a KLK5 inhibitor shows efficacy in a murine model of Netherton syndrome
A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
research An observational analysis of erythromelanosis follicularis faciei et colli
EFFC might be common but underreported.
research Sodium valproate and thrombocytopenia.
Sodium valproate can cause low platelet count.
research Case Series: Gene Expression Analysis in Canine Vogt-Koyanagi-Harada/Uveodermatologic Syndrome and Vitiligo Reveals Conserved Immunopathogenesis Pathways Between Dog and Human Autoimmune Pigmentary Disorders
The immune processes causing VKH and vitiligo are similar in dogs and humans.
research Sa1389: LESSONS FROM HEPATITIS C TREATMENT DURING THE COVID-19 PANDEMIC: DECREASED RESOURCE UTILIZATION LEADS TO SIMILAR EFFICACY IN BRITISH COLUMBIA, CANADA
Supplemental testosterone may lower liver cancer risk in hepatitis C patients.
research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
research Recurrence of cutaneous T‐cell lymphoma post viral vector COVID‐19 vaccination
COVID-19 vaccination may trigger recurrence of cutaneous T-cell lymphoma in some patients.