research Widespread erythematous scaly eruption in an infant with phenylketonuria
Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.
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810-840 / 1000+ resultsresearch Rickets with alopecia: An inborn error of vitaminD metabolism
Two sisters with rickets and hair loss had a genetic issue with vitamin D processing, and only improved when given phosphorus supplements.
research Conditional Knockout in Mice Reveals the Critical Roles of Ppp2ca in Epidermis Development
PP2Acα is essential for proper hair and skin development.
research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
research G367(P) A chubby child: is this a sign of health or malnutrition?
A chubby child can still be malnourished.
research Serum Progranulin and Insulin Resistance Evaluation in Male Androgenetic Alopecia Patients
AGA patients have higher insulin resistance and serum progranulin levels, suggesting a link to metabolic issues.
research Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report
A child with a rare vitamin D-resistant condition improved with treatment.
research Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
research Biotin deficiency complicating parenteral alimentation: Diagnosis, metabolic repercussions, and treatment
Biotin deficiency in patients on total parenteral nutrition can cause serious symptoms but can be treated with biotin supplements.
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research Biochemical changes and liver tissue pathology in weanling Wistar albino rats with protein-energy malnutrition (PEM).
Low protein diets cause severe health issues in rats, but high protein diets can reverse these effects.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Pellagrous dermatitis: a forgotten entity
Pellagrous dermatitis, caused by niacin deficiency, can be cured with vitamin supplements.
research Decreased selenium intake and low plasma selenium concentrations leading to clinical symptoms in a child with propionic acidaemia
Selenium deficiency caused symptoms in a child, which improved with selenium supplements.
research A study of biochemical factors and knowledge, attitude, and practice in patients with premature graying of hair
Premature graying of hair is linked to vitamin D and B12 deficiencies, thyroid issues, iron imbalance, stress, and lifestyle habits, and affects quality of life.
research Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research Dermatopathia pigmentosa reticularis: A report of a case with delayed onset alopecia and onychodystrophy
DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research PLACK syndrome associated with alopecia areata and a novel homozygous base pair insertion in exon 18 of CAST gene
A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
research PNKP is required for maintaining the integrity of progenitor cell populations in adult mice
PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.
research 43237 Infantile Perianal Pyramidal Protrusion (IPPP): A Retrospective Review of 28 Patients
Recognizing IPPP is crucial to prevent misdiagnosis and unnecessary treatments.
research Man made disease: Clinical manifestations of low phenylalanine levels in an inadequately treated phenylketonuria patient and mouse study
Proper diet management is crucial for phenylketonuria patients to avoid severe health issues.
research Localised Skin Hyperpigmentation as a Presenting Symptom of Vitamin B12 Deficiency Complicating Chronic Atrophic Gastritis
Vitamin B12 deficiency can cause skin darkening and other symptoms, which improve with B12 supplements.
research Thyrotoxic hypokalemic periodic paralysis in a Brazilian male: a case report
Consider THPP in patients with muscle weakness and low potassium, as it is often underdiagnosed.
research 6874 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 requiring high doses of calcium and vitamin D for treatment.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research The Nutritional Approach to Experimental Dermatology. Nutritional Dermatoses in the Rat
Rats with a pellagra-like skin condition were cured by a vitamin found in yeast, later identified as vitamin B6.
research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research ST Premature Graying Hair in Seven Years Old Children
Premature graying in young children can affect self-esteem, and addressing underlying health issues may reverse it.
research Pernicious anemia in a patient with Type 1 diabetes mellitus and alopecia areata universalis
Patients with Type 1 diabetes should be screened for pernicious anemia.