research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
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240-270 / 1000+ results research Two Cases of Danon Disease – A ‘Cousin’ of Pompe Disease
Danon disease can be hard to diagnose due to non-specific symptoms.
research Menkes Syndrome Presenting as Myoclonic Seizures: Neuroimaging and EEG Observations
An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
research Correspondence
RAPK is a rare skin disorder with pigmented spots, mainly on hands and feet, starting in youth.
research Hair calcium paradox – a report of two cases of a controlled intermittent dietary calcium, magnesium and vitamin D supplementation vs. a case of non supplementation
Tailored supplementation of calcium, magnesium, and vitamin D based on hair analysis may improve bone health.
research An Infant with Worsening Rash
The rash on the infant indicated a serious underlying condition.
research Skin and nail disorders in relation to chronic renal failure
Chronic kidney disease can cause skin and nail problems.
research ‘Disappearing Foot Disease’: An Unusual Presentation of Primary Lymphoma of Bone
An elderly woman's swollen, painful foot was found to be caused by a rare type of bone lymphoma, which improved with radiation treatment.
research Calcium regulation of stem cells
Calcium is important for stem cell function and maintenance, especially in blood and skin cells.
research The role of vitamin D deficiency in parathyroid hormone levels
Low vitamin D levels can lead to increased parathyroid hormone levels.
research Zinc and Growth with Picky Eating in a Jordan Pediatric Clinic: An Observational Study
Picky eating in children is linked to lower weight, hemoglobin, vitamin D, and zinc levels.
research Clinical features of non‐classical 21‐hydroxylase deficiency after normal newborn mass screening
Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
research A patient with Cronkhite-Canada syndrome whose entire digestive tracts was examined endoscopically
Prednisolone improved symptoms in a woman with Cronkhite-Canada syndrome, but regular screenings are needed due to cancer risk.
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency—x-linked recessive ichthyosis: a case report and review of literature
A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
research Porphyria Cutanea Tarda in a Patient With Agnogenic Myeloid Metaplasia
Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
research Enteropathica Acrodermatitis Complicated by Necrotising Fasciitis in an Infant Admitted to the Paediatric Emergency Department of the Gabriel Touré University Hospital
A 7-month-old girl with a rare skin disorder died because diagnosis was delayed.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research Evaluation of Premature Pubarche Cases: A Single CenterExperience
Careful diagnosis is crucial for premature pubarche, as 20% of cases have other conditions.
research A Girl with a Novel Splice Site Mutation in VDR Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
A mutation in the VDR gene affects hair cycling without needing ligand binding.
research Scurvy masquerading as leukocytoclastic vasculitis: a case report and review of the literature.
Scurvy, caused by lack of vitamin C, can be mistaken for other conditions but improves with vitamin C supplements.
research A Case of Familial Male-limited Precocious Puberty with a Novel Mutation
A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
research Increased risk of fractures in patients with polycystic ovary syndrome: a nationwide population-based retrospective cohort study
Women with polycystic ovary syndrome have a higher risk of certain fractures.
research Serum Iron, Ferritin and Calcium Levels in Premature Canities
People with early graying hair often have lower levels of iron, ferritin, and calcium.
research Safety, tolerability, and PK of topical calcitriol formulation for treatment of chemotherapy-induced alopecia (CIA) in patients receiving taxane-based regimen: Final results.
Topical calcitriol was safe and well-tolerated for potential hair loss prevention in chemotherapy patients.
research Multicentric calcified trichilemmal cysts with alopecia universalis affecting siblings
Two sisters had rare, widespread cysts and complete hair loss, suggesting a genetic link.
research Systematized Epidermal Nevus with Epidermolytic Hyperkeratosis Improving with Topical Calcipotriol/Betametasone Dipropionate Combination Ointment
The boy's skin condition improved significantly with a specific ointment after other treatments showed only mild results.
research [The Netherton syndrome with alopecia and prolinuria].
Netherton syndrome in a boy caused skin and hair issues, and treatment didn't work.
research The parathyroid hormone-related protein as a regulator of normal tissue functions
PTHrP regulates various normal body functions, including bone development, skin, and muscle function.
research A correlation of breast cancer and calcium levels in hair analyzed by X-ray fluorescence
High calcium levels in hair may indicate early breast cancer.