research Biotinidase deficiency: a survey of 10 cases.
Biotin treatment improves symptoms of biotinidase deficiency, but some neurological damage may be permanent.
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600-630 / 1000+ resultsresearch Alopecia Mucinosa
Alopecia mucinosa is a challenging condition with unclear diagnosis and treatment.
research Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
Two cases showed skin abnormalities without bone or neural defects.
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 Dermatologic Manifestations in Patients with Metabolic Syndrome in Brazil
Most people with metabolic syndrome in Brazil have skin issues, especially if they are morbidly obese.
research Familial Nonmembranous Aplasia Cutis of the Scalp
Some families have a genetic condition where they are born with irregular scalp defects.
research Multiple facial atrophic scars in childhood
A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
research Fatal Rapunzel Syndrome
A child died from eating hair, causing severe stomach blockages and infection.
research Cholesterol homeostasis in hair follicle keratinocytes is disrupted by impaired ABCA5 activity
Impaired ABCA5 activity disrupts cholesterol balance in hair follicle cells, affecting hair growth.
research Zinc deficiency during total parenteral nutrition in childhood
Long-term TPN in children can cause zinc deficiency, leading to health issues.
research Metabolic disease with autoimmune phenomena: 2 cases of SLE-like disease in young children diagnosed with lysinuric protein intolerance
Two children with lysinuric protein intolerance showed symptoms similar to lupus.
research Delayed Diagnosis of Familial Adenomatous Polyposis-related Colon Cancer in an Adolescent with Coexisting Eating Disorder: A Case Report
Early diagnosis of colorectal cancer in young patients with certain symptoms is crucial for better outcomes.
research Malt1 Protease Is Critical in Maintaining Function of Regulatory T Cells and May Be a Therapeutic Target for Antitumor Immunity
Malt1 protease is essential for regulatory T cell function and could be targeted to boost antitumor immunity.
research SCURVY PRESENTING WITH CUTANEOUS AND ARTICULAR SIGNS AND DECREASE IN RED AND WHITE BLOOD CELLS
Vitamin C is essential to prevent scurvy and its symptoms.
research [Studies on monilethrix].
Monilethrix is not caused by a metabolic defect.
research Reversible cutaneous hyperpigmentation and nails with white hair due to vitamin B12 deficiency.
Vitamin B12 deficiency can cause skin darkening and white hair, but it's reversible.
research Moniletherix
Monilethrix causes short, fragile hair with no specific treatment available.
research Author response: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
research Presentation, diagnosis, and management options of lipedematous alopecia
Lipedematous alopecia involves a thickened scalp and hair loss, with limited effective treatments available.
research How to diagnose a lipodystrophy syndrome
The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.
research Rectal Bezoar: A Rare Cause of Intestinal Obstruction
research Trans-Epidermal Elimination Due to Insulin Formulation: Report of a Rare Adverse Effect
Switching insulin brands caused skin lesions in a diabetic woman, resolved by changing to oral medication.
research 42863 The association of milia-like calcinosis cutis, alopecia totalis and hyperthyroidism linked with the novel mutation for RBM28
Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.
research Adams–Oliver syndrome: new evidence in variable expressivity?
The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
research Loose anagen hair syndrome presenting as patchy hypotrichosis – clinico-trichoscopic correlation
Early recognition of loose anagen hair syndrome is important to prevent misdiagnosis and unnecessary treatments.
research A forgotten and hidden disease
The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.
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 Skin manifestations of Bardet–Biedl syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research Aplasia cutis congenita on lumbosacral area
A newborn girl has a rare skin condition with two ulcers on her buttock that are healing on their own.
research A RARE CASE OF VITAMIN D DEPENDENT RICKETS TYPE-2A PRESENTED AS ALOPECIA TOTALIS
Vitamin D Dependent Rickets Type-2A can cause complete hair loss and bone growth issues in infants.