research Natural Killer Group 2 Type D (NKG2D) Gene Polymorphism in Systemic Lupus Erythematosus-Suez Canal Region - Egypt
NKG2D gene polymorphism doesn't affect SLE risk but may influence symptoms like rash and hair loss.
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research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research Genome-Wide Association Study of Alopecia Areata in Taiwan: The Conflict Between Individuals and Hair Follicles
Certain genetic variants linked to immune response increase the risk of alopecia areata in Taiwanese people.
research Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.
The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
research High-risk cutaneous squamous cell carcinoma in a Japanese allogeneic bone marrow transplant recipient on long-term voriconazole
A Japanese bone marrow transplant patient developed a rare skin cancer possibly linked to long-term use of the medication voriconazole.
research Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review
The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
research A Case of Systemic Lupus Erythematosus with Cutaneous Leukocytoclastic Vasculitis
A woman with lupus developed a rare skin condition, which improved with increased medication.
research A Case of Satoyoshi Syndrome: A Multisystem Disorder
Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.
research Follicular dystrophy of immunosuppression
Follicular dystrophy in immunocompromised patients may be linked to medication or viral factors and can improve with treatment changes.
research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
research A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses
A vitamin D receptor mutation causes rickets and affects immune responses.
research Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report
Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
research LUPUS VASCULITIS
A woman with Lupus Vasculitis improved after treatment with steroids and other medications.
research Pyodermatitis vegetans associated with multiple myeloma
A skin condition called pyodermatitis vegetans was found in a patient with multiple myeloma for the first time.
research Polymorphisms in the promoter regions of the CXCL1 and CXCL2 genes contribute to increased risk of alopecia areata in the Korean population
Certain gene variations increase the risk of alopecia areata in Koreans.
research Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma
The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
research Choroidal Melanoma and Lid Fibrofoliculomas in Birt-Hogg-Dubé Syndrome
A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
research Pretibial Myxedema with Graves' Disease: A Case Report and Review of Japanese Literature
Pretibial myxedema can occur with Graves' disease, showing skin changes like waxy plaques and swelling.
research GENOTYPE ? PHENOTYPE CORRELATIONS IN CUTANEOUS MELANOMA PATIENTS CARRIER OF THE MITF p.E318K PATHOGENIC VARIANT
MITF+ melanoma patients are more likely to have multiple melanomas and unique skin patterns.
research Ocular manifestation in progeria: A case report
A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.
research 015 Hypopigmented Mycosis Fungoides Progressing to Systemic Involvement- A Case Report and Review of Literature
A 73-year-old woman with Hypopigmented Mycosis Fungoides, a rare skin lymphoma, experienced disease progression despite treatment, emphasizing the need for ongoing monitoring.
research Two siblings with uncombable hair syndrome: A new pathogenic variant
Two siblings have a rare hair condition caused by a new genetic variant.
research Porokeratotic Eccrine Duct and Hair Follicle Nevus (PEHFN) Associated with Keratitis-Ichthyosis-Deafness (KID) Syndrome
A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
research Missense mutation Y449H of the K10 gene in a patient with severe epidermolytic ichthyosis
A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
research Cronkhite-Canada syndrome: Report of an unusual case
The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.
research [Two cases of the rare Cronkhite-Canada syndrome].
Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
research Characterization of novel TMEM173 mutation with additive IFIH1 risk allele
A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
research Hutchinson-Gilford progeria syndrome - A brief introduction
Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
research Independent DSG4 frameshift variants in cats with hair shaft dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene
Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.