research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
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810-840 / 1000+ resultsresearch Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2
Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
research Serum Biotinidase Activity in Children Treated With Valproic Acid and Carbamazepine
Valproic acid does not change biotinidase enzyme activity in children's blood.
research Type II Vitamin D Dependent Rickets: A Case Report
Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.
research Treatment of Benign Essential Blepharospasm With Finasteride
Finasteride helps treat eyelid spasms.
research Failure of Fresh Plasma in Leiner Disease
Fresh plasma transfusions did not help treat Leiner disease in an infant.
research Diphenylcyclopropenone-Induced Vitiligo in a Patient with Alopecia Universalis
A patient with total hair loss developed vitiligo after using a treatment called DCP.
research Whitaker syndrome: A case report of autoimmune polyendocrine syndrome type 1 with dilated cardiomyopathy
Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
research Autism spectrum disorder with iodine deficiency hypothyroidism in a 6‐year‐old boy
A 6-year-old boy with autism improved his thyroid function and growth after addressing iodine deficiency caused by picky eating, but his psychiatric symptoms and picky eating continued.
research Atrichia congenita with papular lesions: A rare cause of pediatric alopecia
This rare genetic disorder causes permanent hair loss and skin bumps from birth.
research Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1
The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
research Pregnenolone for the treatment of L-DOPA-induced dyskinesia in Parkinson's disease
Pregnenolone might help manage movement issues caused by Parkinson's disease treatment without reducing the medicine's effectiveness.
research MIXED CONNECTIVE TISSUE DISEASE EVOLVING FROM THE SEQUENTIAL OVERLAP OF SYSTEMIC LUPUS ERYTHEMATOSUS, SJÖGREN’S SYNDROME, RHEUMATOID ARTHRITIS AND DERMATOMYOSITIS: A FOLLOW-UP
Mixed Connective Tissue Disease can develop from overlapping symptoms of several autoimmune diseases, making diagnosis complex.
research Psoriasis y alopecia areata con traquioniquia concurrente en una paciente pediátrica con síndrome de Turner
A girl with Turner syndrome had psoriasis, alopecia areata, and trachyonychia.
research Case 3: The Hypothermic Newborn
The infant with a urea cycle disorder improved with treatment and a liver transplant.
research Supplementary material from "Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair"
Giant axonal neuropathy changes the structure of keratin in human hair, making it stiffer and stronger.
research Dercum Disease: Exploratory Therapeutic Approaches in the Absence of Standardized Medical Treatment—A Single Center Case Series
Individualized treatments may help manage Dercum's disease symptoms.
research Keratosis follicularis spinulosa decalvans in a family
KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
research P27: Coverage of Large Sacral Pressure Sores with the Gluteal Perforator Flap
The SGAP flap effectively treats large sacral pressure sores with good results and minimal complications.
research Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair
Giant axonal neuropathy changes the structure of keratin in human hair.
research When Catastrophic Antiphospholipid Syndrome Meets Acquired Haemophilia A ; A Diagnostic and Management Challenge in Newly Diagnosed Systemic Lupus Erythematosus
Early recognition and a multidisciplinary approach are crucial for effectively managing complex autoimmune conditions like SLE with CAPS and AHA.
research Seizure control and side-effect profile after switching adult epileptic patients from standard to extended-release divalproex sodium
Switching to extended-release divalproex sodium improved patient-reported tremor but did not change seizure frequency or most side effects.
research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Author response: Smad4 restricts differentiation to promote expansion of satellite cell derived progenitors during skeletal muscle regeneration
SMAD4 is crucial for muscle repair in young adults but not in aged mice.
research Pityriasis versicolor on the scalp: An unusual distribution of a common disease
A boy's scalp infection, usually found on the body, was effectively treated with antifungal cream.
research [Sodium valproate (Na VPa) monotherapy in childhood epilepsy ].
Sodium valproate effectively reduces seizures in children with epilepsy, especially in primary generalized cases.
research Central nervous system involvement in autoimmune polyglandular syndrome
Autoimmune polyglandular syndrome can cause temporary brain issues that may improve on their own.
research Hypertensive urgency in a child with focal epilepsy: Is it sodium valproate induced?
Sodium valproate can cause serious high blood pressure in children.
research Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency
The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
research Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports
DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.