research Nilotinib-induced generalized keratosis pilaris: Report of a rare case
Nilotinib can cause generalized keratosis pilaris.
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510-540 / 1000+ resultsresearch Real-world assessment of ritlecitinib in patients with severe alopecia areata: a 24-week multicentre retrospective study
Ritlecitinib may be more effective for severe alopecia areata than conventional treatments.
research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research Systemic Vasculitis with Severe Cutaneous Manifestation as a Suspected Idiosyncratic Hypersensitivity Reaction to Fenbendazole in a Cat
A cat had a rare severe reaction to fenbendazole, but recovered with treatment.
research Pituitary Dependent Hyperadrenocorticism in a Golden Lion Tamarin (Leontopithecus rosalia)
A golden lion tamarin had Cushing's disease due to a pituitary tumor, leading to its euthanasia.
research Approaching fertility in congenital adrenal hyperplasia: exploring P30L mutation-induced 21-hydroxylase deficiency with a presentation between non-classical and simple virilizing phenotypes. A case report
A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
research LB919 Increased risk of skin cancer and other malignancies in patients with cutaneous lupus erythematous
Patients with cutaneous lupus erythematosus have a higher risk of skin cancer and other cancers.
research Autoimmune polyendocrine syndrome type 1 a case report from Bangladesh
A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
research Diagnosis by Hair Sample:A Rare Case of Netherton Syndrome in a 2-Year-Old Girl
Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
research Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
research Azathioprine‐induced alopecia and leukopenia associated with NUDT 15 polymorphisms
Certain genetic variations can make people more likely to experience hair loss and low white blood cell count from azathioprine.
research S2594 Autoimmune Hepatitis Due to Para-Aminobenzoic Acid
Para-aminobenzoic acid in hair supplements can cause autoimmune hepatitis.
research Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
research Bloch-Sulzberger Syndrome: A Rare X-Linked Dominant Genetic Disorder in a Newborn
Early diagnosis of Bloch-Sulzberger Syndrome is crucial to prevent severe complications.
research Acrodermatitis enteropathica – diagnostic challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
research The articulations of Adam's rib with the lower urinary tract
The patient had complex urinary tract issues and ambiguous genitalia, with physical features suggesting a hormonal imbalance.
research Lugol's solution-induced painless thyroiditis
Lugol's solution can cause thyroid problems if used long-term for non-approved reasons.
research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
research Hoffman syndrome with the classic sign of myoedema and an unusual finding of systolic heart failure
Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.
research General adverse response to cyclophosphamide in Chinese patients with systemic autoimmune diseases in recent decade — a single-center retrospective study
Cyclophosphamide often causes gastrointestinal issues, hair loss, and low blood cell counts in Chinese patients with autoimmune diseases.
research The Case | Bilateral kidney tumors and lung cysts
A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
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 Diagnostic dilemma: Multiple Autoimmune Syndrome versus incomplete Graham-Little-Piccardi-Lassueur Syndrome overlap mixed connective tissue disease
The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.
research Classic Sweet sydrome: A case report
A 54-year-old man with painful skin blisters and fever was diagnosed with Sweet syndrome and successfully treated with corticosteroids.
research Multiple Myeloma–Associated Amyloidosis Presenting With Acrolocalized Acquired Cutis Laxa
A man with rare skin changes on his fingers was diagnosed with multiple myeloma-linked amyloidosis.
research Lichenoid eruption and alopecia associated with captopril treatment
Stopping captopril resolved the skin and hair issues, suggesting it caused them.
research Aggressive treatment in paediatric or young patients with drug-induced hypersensitivity syndrome (DiHS)/drug reaction with eosinophilia and systemic symptoms (DRESS) is associated with future development of type III polyglandular autoimmune syndrome
Aggressive treatment in young patients with certain drug reactions may lead to multiple autoimmune diseases later.
research Acute fish liver intoxication: report of three cases.
Eating grouper fish liver can cause vitamin A poisoning with severe symptoms.