research A case of encephalocraniocutaneous lipomatosis
The document reports a rare case of ECCL with a new association with optic disc colobomas.
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150-180 / 1000+ resultsresearch 284 Deciphering the pathogenesis of central centrifugal cicatricial alopecia
CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
research Carbamazepine-Induced Hair Loss
Carbamazepine can cause hair loss, which may reverse when the medication is stopped.
research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
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 Two parietal cephaloceles in a female neonate
A baby girl had two brain-related growths removed and is developing normally.
research The Usual Treatment of Trigeminal Autonomic Cephalalgias
The document concludes that inhalation of oxygen and sumatriptan injections are primary for cluster headaches, indomethacin for paroxysmal hemicrania, and lidocaine and lamotrigine for SUNCT, but SUNCT often resists treatment.
research SODIUM VALPROATE IN the TREATMENT of RESISTANT EPILEPSY
Sodium valproate reduced seizures in many patients with resistant epilepsy.
research 2‐Deoxy‐d ‐glucose enhances tonic inhibition through the neurosteroid‐mediated activation of extrasynaptic GABA A receptors
2-DG reduces seizures by enhancing brain inhibition through specific receptor activation.
research Impaired turnover of autophagolysosomes in cathepsin L deficiency
Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
research Cronkhite-Canada Syndrome Associated with Serrated Adenoma and Malignant Polyp: A Case Report and a Literature Review of 13 Cronkhite-Canada Syndrome Cases in Korea
First Korean case of Cronkhite-Canada syndrome with colon cancer and serrated adenoma.
research MON-080 Cushing Disease Secondary To Rathke’s Cleft Cyst
Rathke’s cleft cysts can rarely cause Cushing disease, and surgery can improve symptoms.
research Leptomeningeal angiomatosis accompanied by hair follicle nevus
A baby had a rare condition with abnormal blood vessels in the brain and unusual skin and hair growth, possibly a new syndrome.
research The role of cathepsin E in terminal differentiation of keratinocytes
Cathepsin E is crucial for normal skin cell differentiation and development.
research 5. Novel anticonvulsant effects of supraphysiological doses of progesterone in hippocampal-kindled mice
High doses of progesterone can reduce seizures in mice.
research 3212 Isolated basilar artery reversible cerebral vasoconstriction syndrome associated with finasteride and vaping
RCVS should be considered in thunderclap headaches, and MRA and DSA are better for diagnosis than CT angiogram.
research Tractional ciliary body detachment, choroidal effusion, and hypotony caused by severe anterior lens capsule contraction following cataract surgery
A rare cataract surgery complication was successfully treated with laser capsulotomy.
research Hyperaldosteronism and Hyperprogesteronism in a Cat
Cats with adrenal tumors may have both hyperaldosteronism and hyperprogesteronism.
research A solitary triangular alopecia
A five-year-old girl has a harmless, unchanging bald patch on her scalp.
research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
research Acquired smooth muscle hamartoma with sebaceous component
The patient has a rare skin condition that shows features of two known disorders.
research Multiple pigmentierte Basaliome im Capillitium bei Myotonia dystrophia Curschmann-Steinert
A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
research Epilating Effect of Cystaselenonine on Induced Hair Growth in Mice
Cystaselenonine causes temporary hair loss in mice by interfering with hair growth.
research Antiseizure Medication-Induced Alopecia: A Literature Review
Some antiseizure medications can cause reversible hair loss, with valproate, lamotrigine, and carbamazepine being the most common.
research Cutaneous and Oral Mucosal Lesions in Cri-du-chat Syndrome
Cri-du-chat syndrome can cause skin and oral lesions affecting nutrition and quality of life.
research When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
research Feline trypanosomosis in a free-ranging domestic shorthair cat (Felis catus)
The cat fully recovered from the infection after treatment.
research A Case of Cronkhite-Canada Syndrome Presenting with Hematochezia
Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
research Acquired trichomegaly with topiramate
A woman's eyelashes grew thicker and longer after taking topiramate, but returned to normal when she stopped the medication.
research Vibration, a treatment for migraine, linked to calpain driven changes in actin cytoskeleton
Vibration treatment may reduce migraine pain by changing cell structures.