research Biotinidase Deficiency and Seizures
Biotinidase deficiency can cause symptoms like sleepiness, hair loss, and seizures.
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120-150 / 1000+ results research IMMUNOLOGICAL AND GENETIC ASPECTS OF HEREDITARY ANTIBODY DEFICIENCIES
Children with frequent severe infections and low antibodies should be checked for immune deficiencies.
research Hyperammonemic encephalopathy without hepatic dysfunction due to treatment with valproate: four cases and a mini review
Valproate can cause brain swelling with high ammonia levels, possibly underreported, especially in psychiatric patients.
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 Hepatic and dermatologic manifestations of chronic hypervitaminosis A in adults. Report of two cases
Too much vitamin A can cause liver damage and skin issues.
research Cutaneous necrosis after injection of polyethylene glycol–modified interferon alfa
Some patients receiving pegylated interferon alfa injections developed skin necrosis, requiring treatment adjustments or discontinuation.
research Reversible Facial Hyperpigmentation Associated With Vitamin B12 Deficiency
Vitamin B12 deficiency can cause facial dark spots that go away with treatment.
research Ocular aspects in biotinidase deficiency Clinical and genetic original studies
Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.
research Reversible hyperpigmentation of skin and nails with white hair due to vitamin B12 deficiency
Vitamin B12 deficiency can cause skin and hair color changes, which can be reversed with treatment.
research Inborn Errors of Metabolism
Doctors need to recognize and treat metabolic disorders in children early to prevent serious health issues.
research Hepatitis C ‐related mixed type vitiligo in a patient with I vemark syndrome
A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.
research Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research Biotinidase Enzyme Deficiency ( Case Report )
A rare biotin deficiency in an Iraqi family caused severe symptoms but was successfully treated with lifelong biotin.
research Unilateral heterochromia of scalp hair with adjacent hypomelanotic skin lesions
The boy's hair and skin color differences are due to a pigmentation disorder.
research Phototherapy in pediatric patients: 5-years single center experience
Phototherapy is often used for psoriasis in children, but it has low success rates.
research 66-Year-Old Woman With Painless Vesicular Lesions
A 66-year-old woman with skin lesions and other symptoms improved after treatment for porphyria cutanea tarda.
research Hyperammonemia with Valproic Acid: Colonic Ischemia Associated with “Triptan” Use Visual Side Effects with Pegylated Interferon: Alopecia Areata with Infliximab: Adverse Effects Seen with Medications Used for Irritable Bowel Syndrome
Certain medications can cause serious side effects, so it's important to report them.
research Reversible alopecia universalis secondary to PEG-interferon ??-2b and ribavirin combination therapy in a patient with chronic hepatitis C virus infection
A woman's total hair loss from hepatitis C treatment grew back after stopping the medication.
research New Drugs: Eculizumab
Eculizumab helps reduce blood transfusions and stabilize hemoglobin but increases infection risk and is expensive.
research Acute fish liver intoxication: report of three cases.
Eating grouper fish liver can cause vitamin A poisoning with severe symptoms.
research Alopecia universalis as a side effect of pegylated interferon α-ribavirin combination therapy for hepatitis C: a rare case report
A man lost all his hair as a rare side effect after hepatitis C treatment.
research Sodium Valproate-Induced Hyperpigmentation
Sodium valproate can rarely cause skin darkening, which may improve after stopping the drug.
research Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy
Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
research 66-Year-Old Woman With Painless Vesicular Lesions
A woman was diagnosed with porphyria cutanea tarda and improved with phlebotomy and lifestyle changes.
research Acrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease
A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
research Efficacy and Safety of Sirolimus for Blue Rubber Bleb Nevus Syndrome: A Prospective Study
Sirolimus effectively reduces lesions and improves quality of life in Blue Rubber Bleb Nevus Syndrome with manageable side effects.
research Reversible Hyperpigmentation of Skin and Nails With White Hair due to Vitamin B12 Deficiency
Vitamin B12 deficiency can cause skin and hair color changes, which are reversible with treatment.
research Alopecia universalis following interferon alfa-2b and ribavirin treatment for hepatitis C.
A woman lost all her body hair after hepatitis C treatment, but it started to grow back a year after stopping the treatment.
research Perforating folliculitis with jaundice in an Indian male: a rare case with sclerosing cholangitis
Surgery resolved the man's skin and liver issues, and he stayed symptom-free for a year.
research Tyrosinase inhibition due to interaction of homocyst(e)ine with copper: the mechanism for reversible hypopigmentation in homocystinuria due to cystathionine beta-synthase deficiency.
Lowering homocyst(e)ine levels can reverse skin and hair lightening by restoring enzyme activity needed for pigmentation.