research Mucocutaneous findings in pediatric patients with bone marrow transplantation
Skin and mucous membrane issues are common in kids after bone marrow transplants, so careful monitoring is crucial.
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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 Leprosy on the scalp
A man from Brazil had a rare case of leprosy on his scalp, which improved with treatment.
research Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature
Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
research Granulomatous skin involvement in a patient with an unusual NOD2 mutation
A rare genetic mutation caused unusual skin symptoms in a man with Blau syndrome.
research Loss of the Y Chromosome: A Review of Molecular Mechanisms, Age Inference, and Implications for Men’s Health
Loss of the Y chromosome in men is linked to health issues like heart disease and cancer.
research Unilateral widespread lichen planus following Blaschko's lines afterMycoplasma pneumoniaeinfection
An 8-year-old girl developed a rare skin condition in a linear pattern on one side of her body after a lung infection, which improved with treatment.
research Peptichemio: A New Oncolytic Drug in Combination with Vincristine and Prednisolone in the Treatment of Non-Hodgkin Lymphomas
The treatment was effective for advanced non-Hodgkin's lymphomas.
research Comparison between low-dose chemotherapy and surgery for the treatment of extremity-associated solitary bone lesions in children with Langerhans cell histiocytosis in South China: A case-control study
Low-dose chemotherapy is safer, more effective, and cost-effective than surgery for treating bone lesions in children.
research Novel KRT 83 and KRT 86 mutations associated with monilethrix
New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
research X linked mental retardation.
X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
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 SWEET SYNDROME: AN UNUSUAL PRESENTATION OF CHRONIC GRANULOMATOUS DISEASE IN A CHILD
A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.
research Adrenoleukodystrophy: A Rare Case Report
Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
research Follicular induction and CK20+ Merkel cells overlying cutaneous focal mucinosis
Some skin growths with mucin can form hair follicles and resemble skin cancer, but a special stain can help tell them apart.
research Establishment of a murine cGVHD model with scleroderma
A mouse model for studying scleroderma in chronic graft-versus-host disease was successfully created.
research Severe Unilateral Alopecia in a Long-Term Surviving Male Adolescent Glioblastoma Multiforme Patient
There's an urgent need for better treatments for hair loss caused by radiation therapy.
research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
research The effect of DNMTs and MBPs on hypomethylation in systemic lupus erythematosus
Certain proteins involved in DNA modification may affect the genetic changes in systemic lupus erythematosus and could indicate the disease's activity.
research 058 Subset analysis of NKG2D+ cells in peripheral blood mononuclear cells
The study suggests that a specific type of immune cell, memory-like NK cells, may increase during active hair loss in Alopecia areata.
research AI04 A novel machine learning software application for prognosticating cutaneous malignant melanoma based on data from 78 351 patients from the Surveillance, Epidemiology, and End Results (SEER) database
The new AI software predicts melanoma outcomes more accurately than traditional methods.
research Congenital cutaneous lymphadenoma
An 8-year-old girl had a rare, benign skin tumor on her forehead.
research ‘Malignant melanoma microecosystem’: Immunohistopathological insights into the stromal cell phenotype
Stromal cells in melanoma promote tumor growth and spread.
research Clinical and histological study of permanent alopecia after bone marrow transplantation
Permanent hair loss after bone marrow transplant can be caused by chemotherapy or chronic graft-versus-host disease.
research Metastatic Melanoma of the Tongue: A Rare Case
An 86-year-old man had a rare tongue melanoma but refused treatment, showing the need for early cancer detection and treatment.
research Lupus erythematosus-like lesions in a carrier of X-linked chronic granulomatous disease: A case report and personal considerations
A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
research Rituximab for Bone Lymphoma
Rituximab effectively treated a woman's bone lymphoma that was resistant to other treatments.
research NUDT15 R139C-related thiopurine leukocytopenia is mediated by 6-thioguanine nucleotide-independent mechanism in Japanese patients with inflammatory bowel disease
The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.