research Human essential fatty acid deficiency: treatment by topical application of linoleic acid.
Applying linoleic acid to the skin fixed essential fatty acid deficiency symptoms.
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research Vitamin D dependent rickets type 2: a case-based review of patient with alopecia and rickets
A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.
research A rare case of Vitamin D dependent rickets type II: a case report
A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.
research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Skin manifestations amongGATA2-deficient patients
Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
research The clinical features and long time follow-up of neonatal lupus erythematosus in 12 children
Neonatal lupus symptoms usually resolve, but some children may develop other autoimmune diseases later.
research A New Case of Isolated Trichothiodystrophy
A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
research SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research The Handbook of School Health
Early diagnosis and treatment with biotin are crucial for preventing severe outcomes in certain conditions.
research Sjogren-Larsson Syndrome
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
research Distinct mutations in human basic hair keratins 1 and 6 cause monilethrix: Implications for protein structure and clinical phenotype
research Diagnosis by Hair Sample:A Rare Case of Netherton Syndrome in a 2-Year-Old Girl
Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
research Atypical presentation of Acrodermatitis enteropathica in a child: later onset with life-threatening severe extensive dermatitis and septic shock
Timely zinc treatment is crucial for preventing severe complications in Acrodermatitis enteropathica.
research Anaplasmosis concurrent with copper deficiency in a Salem Black kid
The young goat had anaplasmosis and copper deficiency.
research A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
A gene mutation in mice causes skin defects and early death.
research Trichothiodystrophy -A Case Report-
Trichothiodystrophy causes unusual hair and developmental issues.
research Unexpected hypozincaemia in a patient with discharging empyema that proved resistant to replacement therapy
Zinc levels remained low despite treatment, likely due to absorption issues.
research The Etiological Role of Thyroid Dysfunction and Vitamin Deficiency in Patients with Telogen Effluvium
Thyroid dysfunction, vitamin D and B12 deficiencies, and iron deficiency may be linked to hair loss condition Telogen Effluvium.
research Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
research Role of Lactoferrin in Chronic Telgon Effluvium
Lactoferrin levels are lower in people with chronic hair shedding, suggesting supplements could help treat it.
research Skin Hyperpigmentation and Increased Angiogenesis Secondary to Vitamin B12 Deficiency in a Young Vegetarian Woman
Vitamin B12 deficiency can cause skin darkening and increased blood vessels, but treatment can improve symptoms.
research Monilethrix
Monilethrix has no effective treatment, but avoiding hair trauma helps manage it.
research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
research Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type
Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
research Monilethrix: a typical case report with microscopic and dermatoscopic findings
A 6-year-old girl was diagnosed with a rare hair disorder and started treatment with topical minoxidil.
research Retrospective Evaluation of Patients with The Diagnosis of Telogen Effluvium
Many people with hair loss had low iron and ferritin levels.
research An unusual presentation of vitamin D dependent rickets type 2 with low 25 (OH) D3 levels and alopecia: a case report of two siblings
Two siblings with a rare type of rickets and hair loss had low vitamin D levels, which is not typical for their condition.
research Monilethrix in pattern distribution in siblings: Diagnosis by trichoscopy
Trichoscopy can diagnose monilethrix, a genetic hair defect causing hair thinning and loss.
research Hair loss with levetiracetam in five patients with epilepsy
Levetiracetam may cause hair loss, which can potentially reverse with lower doses or stopping the drug.