research WRIST PAIN IN A GYMNAST WITH PRIMARY AMENORRHEA
The gymnast's wrist pain and delayed menstruation are linked to intense exercise, requiring reduced activity and monitoring.
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research Plica polonica: Trichoscopic findings with a brief literature review
Plica polonica is a rare condition where hair becomes irreversibly tangled, and the treatment is to cut the matted hair.
research WOOLY HAIR PALMOPLANTAR KERATODERMA : A CASE REPORT
Topical 6% salicylic acid effectively reduced skin plaques in a patient with wooly hair and palmoplantar keratoderma.
research ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
research Surgical Correction of cicatricial Entropion in cattle: Two cases
The Hotz-Celsus surgery successfully fixed inward-turning eyelids in cattle.
research The Effects of Botulinum Toxin on Vascular Diameter: A Preliminary Report
Botulinum toxin type A may widen certain arteries, but more research is needed.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research Queratose folicular espinulosa decalvante: relato de caso
A rare genetic disease caused severe, worsening hair loss from early childhood with poor treatment results.
research Safety and Efficacy of Intravenous ExoFlo in the Treatment of Complex Regional Pain Syndrome
ExoFlo is safe and effective for treating Complex Regional Pain Syndrome symptoms.
research Data Sheet 1_The clinical features, muscle pathology, and role of autophagy in anti-Ku-positive patients.docx
Anti-Ku-positive patients often have muscle weakness and autophagy plays a key role in their condition.
research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research Graham-Little-Piccardi-Lassueur Syndrome: Two Case Reports and Review of the Literature
The document concludes that treatment improved skin lesions but not scalp hair loss in two patients with Graham-Little-Piccardi-Lassueur syndrome.
research Anti-SRP Antibody-positive Myopathy with Universal Alopecia and Multiple Vitiligo
Autoimmune myopathy may be linked to hair loss and skin depigmentation.
research Experiment study of human hair keratin transplanted to adult rat after spinal cord injury
Human hair keratin may help repair spinal cord injuries.
research Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
research Hair tourniquet syndrome of toes and fingers in infants
Hair tourniquet syndrome in infants can be treated successfully with immediate hair removal.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Acute parenchymal lung involvement in a 68-year-old woman with systemic lupus erythematosus, anemia, and thrombocytopenia
A 68-year-old woman with lupus and blood disorders improved after increased steroids and immunoglobulin treatment.
research Successful Management of Netherton Syndrome Using IVIG and Dupilumab: A Case Report
IVIG and dupilumab effectively improved symptoms in a child with Netherton syndrome.
research Generalized Pustular Psoriasis
Generalized pustular psoriasis patients often need strong medication and careful treatment due to flare-ups and complications.
research A blistering child: sudden erythema with blisters in a sick girl
Gene sequencing is essential for diagnosing junctional epidermolysis bullosa.
research Hereditary vitamin D rickets: a case series in a family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
research Severe and Fatal Phenobarbitone Eruptions
Phenobarbitone can cause severe and sometimes fatal skin reactions.
research Index of Suspicion
A boy with long QT syndrome was treated successfully, highlighting the need for careful evaluation of chest pain in children for heart conditions like LQTS.
research C3-C4 shingles post haematopoietic stem-cell transplantation
A 12-year-old boy had severe shingles and skin damage after a stem-cell transplant.
research Viral-associated trichodysplasia spinulosa: a case with electron microscopic and molecular detection of the trichodysplasia spinulosa-associated human polyomavirus
A rare skin condition was confirmed to be associated with a specific virus in a young girl.
research Paraproteinemic keratopathy: recognizing the ocular significance
Paraproteinemic keratopathy can show eye symptoms before other signs of disease, needing careful treatment and long-term follow-up.
research Sindrom Fahr: Kalsifikasi Intraserebral Patologis
Fahr syndrome causes brain calcification and is managed by treating symptoms and underlying issues.
research A case of congenital pili multigemini
A rare, harmless hair condition was found in an infant's eyebrow, needing no treatment.
research Polyomavirus Associated Trichodysplasia Spinulosa in a Pediatric Kidney Transplant Recipient
A rare skin infection in a 10-year-old kidney transplant patient was successfully managed by adjusting medication.