research Neurotrichosis: Hair‐shaft Abnormalities associated with Neurological Diseases
Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
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research ETP026 A case of alopecia areata associated with low dosage VPA treatment
Low dose valproic acid treatment caused hair loss in a young patient.
research Micturitional disturbance in a patient with adrenomyeloneuropathy (AMN)
Adrenomyeloneuropathy (AMN) can cause bladder problems due to nerve damage.
research Ophiasis Pattern Alopecia Areata in an Infant
Early recognition and treatment of atypical alopecia areata in infants are crucial.
research Plica polonica following use of homeopathic antidandruff shampoo containing canthalin
A homeopathic antidandruff shampoo caused severe hair matting in a girl.
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 Parkinsonism with a bovine cough: an unusual presentation.
Sodium valproate can cause low platelets and hair loss.
research Hypothalamic hamartoma with pubertas precox and gelastic seizure in a boy (Case Report)
A boy with early puberty and laughing seizures was treated, stopping seizures and slowing puberty.
research Asymptomatic SARS-COV2 Infection or COVID-19 vaccination effect for severe multisystem inflammatory syndrome in a 6-year-old girl: case report and review of the literature
COVID-19 vaccination may be linked to MIS-C in children, highlighting the need for quick diagnosis and treatment.
research Striking White Hair
Poliosis causes white hair patches due to lack of melanin.
research Rickets with alopecia: An inborn error of vitaminD metabolism
Two sisters with rickets and hair loss had a genetic issue with vitamin D processing, and only improved when given phosphorus supplements.
research A case of encephalocraniocutaneous lipomatosis
The document reports a rare case of ECCL with a new association with optic disc colobomas.
research Encephalocraniocutaneous lipomatosis: congenital alopecia treatment in a rare neurocutaneous syndrome
A girl with a rare syndrome had successful hair loss treatment with no relapse after 4 years.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Linear lupus panniculitis of scalp: a case report from north-east India
A child with a rare scalp condition regrew hair after treatment.
research Developmental Regulation of Prion Expression in Cattle and Mouse Embryonic Stem Cells
PrPC is important for neural differentiation in cattle and mouse embryonic stem cells.
research Congenital insensitivity to pain with anhidrosis and progressing acro-osteolysis: a case report with 7-year follow-up
Early intervention and protective measures are crucial for managing CIPA due to the lack of pain and standard treatment.
research Phénylcétonurie de l’adulte : manifestations neurologiques et modalités évolutives
Proper diet management is crucial for preventing severe symptoms in phenylketonuria.
research Pilomatricoma of the calf: a case report and review of literature
Surgeons should know about pilomatricoma for accurate diagnosis, even though it's rare.
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 Spinal and bulbar muscular atrophy: pathogenesis and clinical management
Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
research PILOMATRICOMA: A CASE REPORT AND INTRAORAL SURGICAL APPROACH
The report shows that a rare benign tumor was successfully removed from inside the mouth to avoid scarring on the face.
research Abstract 21: Preoperative Versus Postoperative Language Specialization in Infants with Sagittal Craniosynostosis: An ERP Study
Surgery may help infants with sagittal craniosynostosis develop more typical language processing.
research Lucio Phenomenon: Sequelae of Neglected Leprosy
Early diagnosis of leprosy is crucial to prevent disabilities and spread, even in non-endemic areas.
research The human promyelocytic leukemia protein is a tumor suppressor for murine skin carcinogenesis
The PML protein helps prevent skin cancer in mice.
research A forgotten and hidden disease
The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.
research Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome
Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
research Liver transplantation for propionic acidemia in children
Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.
research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
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.