research Bamboo Hair Syndrome or Netherton Syndrome - A Case Report
Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
Search
for
Sort by
Research
90-120 / 1000+ results 
research Methylmalonic Acidemia: Can Treatment be Improved?
Looser dietary restrictions can improve growth and reduce illness in methylmalonic acidemia patients.
research Acquired Generalized Hypertrichosis Due to Diazoxide
A 6-year-old boy developed excessive hair growth after taking diazoxide for low blood sugar.
research The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )
The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
research A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
A specific gene mutation causes woolly hair and hair loss.
research Telogen Effluvium Following the Treatment of Euglycemic Diabetic Ketoacidosis in a Patient With Heavy Soft Drink Intake: A Case Report
Hair loss can occur after treating diabetic ketoacidosis, especially with rapid weight loss and high soft drink intake.
research Acrodermatitis enteropathica‐like skin eruption with neonatal seizures in a child with biotinidase deficiency
Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
research Pellagroid dermatitis during a ketogenic diet and anti-epileptic therapy.
A boy on a ketogenic diet and anti-epileptic drugs developed skin issues due to stopping vitamin supplements, which improved with proper supplementation.
research A Clinical Approach to Severe Insulin Resistance
Severe insulin resistance can be managed with medication, lifestyle changes, and treatment for related conditions.
research #3665 Glyoxylic acid induce crystalline nephropathy and hair-straightening products: a case report
Hair-straightening products with glyoxylic acid can cause kidney damage.
research Widespread erythematous scaly eruption in an infant with phenylketonuria
Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.
research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
research Morphologische und biochemische untersuchungen am Haar bei gestörtem Aminosäurestoffwechsel
Metabolic disorders can cause hair structure defects and growth issues, but amino acid levels in hair remain normal.
research 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome
Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
research Pallister-Killian Syndrome
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research Biotinidase deficiency: a survey of 10 cases.
Biotin treatment improves symptoms of biotinidase deficiency, but some neurological damage may be permanent.
research Combination of metformin with liraglutide in treating HAIR-AN syndrome in children: A case report and literature review.
Metformin and liraglutide improved symptoms of HAIR-AN syndrome in a child.
research A case of severe hyperandrogenism, acanthosis nigricans and overt diabetes: the use of non-invasive methods for diagnosis, pathogenesis and management
Non-invasive imaging helped diagnose a woman's severe hormone imbalance and diabetes, and medication successfully treated her condition.
research Consumption of a low-carbohydrate and high-fat diet (the ketogenic diet) exaggerates biotin deficiency in mice
The ketogenic diet can worsen biotin deficiency, suggesting a need for biotin supplements.
research The Clinical Center’s Blood Glucose Management Service
The Blood Glucose Management Service improved patient safety and outcomes in managing blood sugar in hospitalized 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 Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
research Nilotinib-Induced Keratosis Pilaris
Nilotinib can cause keratosis pilaris, a skin condition.
research Myotonic dystrophy type 1
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
research E-Poster
Early diagnosis, genetic testing, and innovative treatments are crucial for managing complex medical conditions.
research Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder
Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
research Severe Insulin Resistance in a Pediatric Patient: Key Areas to Address in the Screening
The case emphasizes the need for careful screening in children for insulin resistance and related conditions.
research Successful management of Netherton syndrome using IVIG and dupilumab: A case report
A young boy with Netherton syndrome improved significantly using IVIG, dupilumab, and dietary changes.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.