research Trachyonychia with juvenile pityriasis rubra pilaris
A young boy with a rare skin and nail condition improved significantly with simple topical treatments.
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research Skin manifestations of Bardet–Biedl syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
research Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting
Significant progress was made in understanding PXE, but effective treatments are still needed.
research The role of vitamin D deficiency in parathyroid hormone levels
Low vitamin D levels can lead to increased parathyroid hormone levels.
research Managing hyperglycemia and rash associated with alpelisib: expert consensus recommendations using the Delphi technique
Experts agree on how to manage sugar levels and skin reactions in patients taking the cancer drug alpelisib.
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 Dermal Perifollicular Mineralization of Toy Poodle Bitches
Toy poodles may develop harmless mineral deposits around hair follicles as they age.
research Hoffman syndrome with the classic sign of myoedema and an unusual finding of systolic heart failure
Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.
research Overexpression of alkaline phosphatase improves the hair-inductive capacity of cultured human dermal papilla spheres
Increasing alkaline phosphatase in human skin cells helps to grow more hair.
research Coexistence of psoriasis, and alopecia areata with trachyonychia in a pediatric patient with Turner Syndrome
A 6-year-old girl with Turner syndrome also had psoriasis, alopecia areata, and trachyonychia.
research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Parathyroid adenoma with coeliac disease: primary or quaternary hyperparathyroidism? Gruczolak przytarczyc i choroba trzewna: pierwotna czy czwartorzędowa nadczynność przytarczyc?
A gluten-free diet and removing the parathyroid adenoma helped a girl with coeliac disease and high calcium levels start puberty.
research PO-0071 Role Of Growth Hormone Therapy In Clinical, Laboratory, Radiological Improvement Of Children With Vitamin-d Dependent Rickets Type-2
Growth hormone therapy can improve symptoms and growth in children with Vitamin-D Dependent Rickets Type-2.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Cutaneous Manifestations of Mucopolysaccharidoses
People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
research 43237 Infantile Perianal Pyramidal Protrusion (IPPP): A Retrospective Review of 28 Patients
Recognizing IPPP is crucial to prevent misdiagnosis and unnecessary treatments.
research Impaired Lef1 activation accelerates iPSC-derived keratinocytes differentiation in Hutchinson-Gilford Progeria Syndrome
Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
research Parathyroid Hormone-related Protein in Normal and Neoplastic Canine Tissues: Immunohistochemical Localization and Biochemical Extraction
PTHrP is higher in certain dog tumors and may act as a local growth factor.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
A rare gene variant causes hair and nail issues in a family.
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 Bone infarcts in a woman with systemic lupus erythematosus and antiphospholipid antibody syndrome
A woman with lupus and antiphospholipid syndrome had bone damage, showing the need for careful treatment.
research Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay
Certain genetic variants in keratins increase the risk of tooth decay.
research ADRENAL FAILURE: WHEN ANTIPHOSPHOLIPID SYNDROME LEAVES SCARS
Antiphospholipid syndrome can severely damage adrenal glands, requiring early diagnosis and treatment.
research Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia
A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
research A 36-Year-Old Woman With an Unexpected Cause of Hypokalemia
A 36-year-old woman with low potassium levels was found to have Cushing disease, and after treatment, her potassium levels normalized.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research A Rare Type of Radiation-Induced Alopecia: Proton-Induced Alopecia
A woman's hair grew back after treatment for a rare hair loss caused by proton therapy.