research 43367 Infantile Pacinian Neurofibroma: A Rare Neurogenic Tumor
A rare benign scalp tumor in an infant requires surgical removal.
Search
for
Sort by
Research
840-870 / 1000+ results
research Neuropsychiatric Systemic Lupus Erythematosus Presenting as Bipolar I Disorder With Catatonic Features
A girl initially thought to have a psychiatric disorder was later found to have a lupus-related condition, which improved with proper treatment.
research Commonly prescribed medications associated with alopecia
Valproic acid, a common antiepileptic medication, can cause reversible hair loss in patients.
research PIK3CA gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect
A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
research The coudability sign of alopecia areata: the real story
The document concludes that anticonvulsants like phenytoin may cause skin reactions by affecting tryptophan metabolism and suggests researching vitamin levels in patients with drug reactions.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Identification of Somatic KRAS Mutation in a Korean Baby with Nevus Sebaceus Syndrome
A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.
research Escobar syndrome (multiple pterygium syndrome) associated with osteogenesis imperfecta: a case report
Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
research Toxic and Metabolic Disorders of the Nervous System
Certain vitamins in wrong amounts, alcohol abuse, metals, and other toxins can cause serious brain and nerve damage.
research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
research Two parietal cephaloceles in a female neonate
A baby girl had two brain-related growths removed and is developing normally.
research Case reports on erosive pustular dermatosis of scalp: a cross sectional study at a tertiary care centre
EPDS is a rare, chronic scalp condition that's hard to treat and needs better awareness for improved outcomes.
research A case of encephalocraniocutaneous lipomatosis
The document reports a rare case of ECCL with a new association with optic disc colobomas.
research Erosive pustular dermatosis of the scalp: challenges and solutions
Early treatment of EPDS can improve outcomes and reduce recurrence risk.
research USE OF VALPROIC ACID FOR THE TREATMENT OF NEUROPSYCHIATRIC SYMPTOMS IN ACQUIRED BRAIN INJURIES
Valproic acid effectively reduces aggressive and impulsive behaviors in brain injury patients with acceptable side effects.
research WHEN SILENCE TAKES OVER: A CASE OF CATATONIC SYNDROME REVEALING SYSTEMIC LUPUS ERYTHEMATOSUS
Catatonia can be a rare sign of lupus, needing careful diagnosis and treatment.
research Lareb provides update on lamotrigine-associated alopecia
Lamotrigine can cause hair loss in some patients.
research CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism
A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
research Dipyridamole-Associated Shock and Pulmonary Edema; Oxcarbazepine-Induced Resistant Ventricular Fibrillation; Finasteride-Induced Pseudoporphyria; Suicidal Ideation Associated with Asenapine; Rediscovering Adverse Anticholinergic Effects; Prevalence of Adverse Drug Events in Ambulatory Care
research Childhood epidermolysis bullosa acquisita during squaric acid dibutyl ester immunotherapy for alopecia areata
A 6-year-old boy's skin condition improved after stopping a specific treatment and starting new medications.
research Acute inflammatory demyelinating polyneuropathy associated with pegylated interferon α 2a therapy for chronic hepatitis C virus infection
Pegylated interferon-alpha 2a can cause a rare nerve disorder, but early treatment can lead to full recovery.
research Valproate in the Treatment of Persistent Chronic Daily Headache. An Open Label Study
Valproate significantly improved headaches in two-thirds of patients.
research Alopecia in Association with Lamotrigine Use
Lamotrigine may cause hair loss, affecting treatment compliance and health.
research Alopecia Associated with Gabapentin in the Treatment of Neuropathic Pain
Gabapentin may cause hair loss in patients treated for neuropathic pain.
research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
research A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research British Society for Paediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
research Tufted hair folliculitis after scalp injury.
A man developed recurring scalp inflammation and hair loss after a head injury.
research Pallister-Killian Syndrome
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.