research A case of encephalocraniocutaneous lipomatosis
The document reports a rare case of ECCL with a new association with optic disc colobomas.
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810-840 / 1000+ resultsresearch A rare complication of a common infection
Early treatment of a rare scalp infection led to full recovery and hair regrowth.
research Non-nutritional rickets: Approach, precision medicine, and outcomes
Early diagnosis and tailored treatment improve outcomes for non-nutritional rickets.
research Phenotypic variation in biotinidase deficiency
Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
research #1697882 "A" Vitamin to Consider: Refractory Hypercalcemia from Vitamin A Toxicity
Vitamin A toxicity can cause serious health issues like hypercalcemia and is often overlooked.
research Vitamin D-dependent rickets type II. Defective induction of 25-hydroxyvitamin D3-24-hydroxylase by 1,25-dihydroxyvitamin D3 in cultured skin fibroblasts.
Measuring 24-OHase induction helps identify defects in vitamin D processing and predict treatment response.
research The keratins and their disorders
Mutations in keratin genes cause cell fragility and various skin disorders.
research Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research DKK1 Mediated Inhibition of Wnt Signaling in Postnatal Mice Leads to Loss of TEC Progenitors and Thymic Degeneration
Blocking Wnt signaling in young mice causes thymus shrinkage and cell loss, but recovery is possible when the block is removed.
research Porokeratotic eccrine and hair follicle nevus: a report of two cases and review of the literature
Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
research Serum Vitamin B12 in chronic telogen effluvium patients: A case–control study
People with chronic hair loss often have lower Vitamin B12 levels.
research British Society for Dermatopathology: Summaries of Papers
Some skin conditions are associated with other serious diseases, and office microscopy may miss many fungal infections.
research Platelet-rich Plasma Injection and Lipofilling-assisted Hair Transplantation on Residual Scalp Alopecia Post Aplasia Cutis Congenita Verticis (ACCV)
The combined treatment improved hair growth and scalp health in a patient with scalp alopecia from birth.
research Concomitant Vitiligo and Psoriasis in a Patient Treated with Interferon Alfa‐2a for Chronic Hepatitis B Infection
A girl developed vitiligo and psoriasis after hepatitis B treatment, and stopping the treatment didn't help.
research Prevalence and Etiology of Central Centrifugal Cicatricial Alopecia
CCCA is a common scarring hair loss in African descent women, possibly linked to genetics, hair care practices, and health issues like diabetes.
research Dermatological Conditions in SKIN OF COLOR- A Practical Approach to Centrifugal Cicatricial Alopecia.
research 69-Year-Old Man With Nasal Congestion and Pre-Syncope
A 69-year-old man with sinus infection and fainting spells was diagnosed with a rare kidney disease, treated with steroids and a specific drug, which improved his condition.
research Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa
Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
research Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families
Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.
research A Small Deletion Hotspot in the Type II Keratin GenemK6irs1/Krt2-6gon Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation
The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
research Reversible Vision Loss With Pituitary Microadenoma Following PRP Injection for Hair Growth: A Rare Case Report and a Mini‐Review of the Literature
PRP injection for hair growth can cause reversible vision loss due to inflammatory optic neuropathy.
research Giant Keratoacanthoma Mimicking Squamous Cell Carcinomain a Patient with Chronic Myeloid Leukemia
Giant keratoacanthoma can look like squamous cell carcinoma, requiring careful diagnosis and surgical removal.
research Calcitriol-Resistant Rickets With Alopecia
Calcitriol-resistant rickets is an inherited disorder that affects hair growth and causes hair loss.
research 391 The relative frequency of small vessel cerebrovascular disease and brain atrophy in MRI of patients with psoriasis
Psoriasis patients did not show more brain atrophy or small vessel disease than controls, but longer psoriasis duration was linked to more brain atrophy.
research 068 Association of systemic involvement with skin morphology assessed by multiphoton microscopy in pseudoxanthoma elasticum
Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
research Acute Granulomatous Interstitial Nephritis Post-COVID-19 Vaccination
COVID-19 vaccination may cause kidney inflammation, treatable with steroids and Cellcept.
research Evaluation of vitamin D in pediatric alopecia areata: A case–control study of thirty patients in a tertiary care hospital
Kids with alopecia areata had lower vitamin D levels than healthy kids.
research Diphenylcyclopropenone in severe alopecia areata in children and adolescents: long-term follow-up and relapse rate
Diphenylcyclopropenone is effective and safe for treating severe alopecia areata in children, with maintenance therapy reducing relapse risk.
research Keratosis Follicularis Spinulosa Decalvans. What Syndrome Is This?
Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.