research ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India
Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
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360-390 / 1000+ resultsresearch Skin alterations as possible clinical markers of diabetes mellitus and metabolic syndrome
Skin changes can signal diabetes and metabolic issues, aiding early diagnosis and treatment.
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 Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies
Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
research Editor's Choice
Organ transplant recipients have a higher risk of skin cancer over time, atopic dermatitis skin shows unusual bacterial and fungal patterns, a new tool for measuring hidradenitis suppurativa severity was created, and gene expression changes in male baldness suggest new treatments.
research LB1671 Large-scale skin scRNA-seq profiling highlights distinct body site-specific ligand-receptor interactions and pathways in keratinocytes
Different body areas have unique skin cell communication patterns, explaining why certain skin diseases occur in specific regions.
research Latent polyglandular autoimmune syndrome type 2 case diagnosed during a shock manifestation
A hidden autoimmune syndrome was found during a shock, showing thyroid, adrenal, and ovarian issues.
research 062 A case of autoimmune facial swelling, weakness and sensorineuropathy with lower limb myositis
The woman's facial symptoms are best explained by primary Sjögren’s Syndrome.
research Oral Presentations
The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
research Refractory dermatomyositis–systemic lupus erythematosus overlap syndrome and response to tofacitinib
Tofacitinib successfully treated a woman's severe symptoms from a rare autoimmune condition.
research LP-058 The involvement of scalp and nails in cutaneous lupus erythematosus patients: a retrospective study
Many patients with cutaneous lupus erythematosus experience hair loss and nail problems, which are important for diagnosis and treatment.
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 Upadacitinib in concurrent Crohn's disease, atopic dermatitis and alopecia areata: A case report
research Dermatological Manifestations of Patients with COVID 19: A Cross-sectional study
COVID-19 can cause skin problems.
research Autoimmune polyglandular syndrome type 4 – case report
Patients with one autoimmune disease should be checked for other autoimmune disorders.
research Assessment of Dermatological Disorders with Chronic Hepatitis C Virus Infection
People with chronic Hepatitis C often have skin problems like itching and contact dermatitis, especially older individuals and women.
research Cutaneuos findings in patients with predialysis chronic kidney disease
Almost all patients with chronic kidney disease not yet on dialysis have at least one skin problem.
research Ectodermal Dysplasia: Variable Expressions
Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
research Facial Follicular Spicules: A Rare Cutaneous Presentation of Trichodysplasia Spinulosa
Trichodysplasia spinulosa can occur after a heart transplant due to immunosuppressive drugs.
research Rothmund‐Thomson syndrome type 2 – a rare cause of chronic wounds
Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
research D ERMATOLOGICAL MANIFESTATIONS - ARE THEY SPECIFIC MARKERS FOR SYSTEMIC INVOLVEMENT IN SLE ?
Certain skin symptoms can help detect and manage systemic lupus.
research Erythromelanosis follicularis faciei et colli with reticulated hyperpigmentation of the extremities
A rare skin condition causes red and dark patches on the face and limbs.
research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
research Graham-Little-Piccardi-Lassueur Syndrome: Two Case Reports and Review of the Literature
The document concludes that treatment improved skin lesions but not scalp hair loss in two patients with Graham-Little-Piccardi-Lassueur syndrome.
research Gastrointestinal polyposis with protein-losing enteropathy, abnormal skin pigmentation and loss of hair and nails (Cronkhite-Canada syndrome)
Cronkhite-Canada Syndrome often leads to death within 6-18 months.
research Comparative study of cutaneous manifestations in patients with chronic kidney disease , patients on haemodialysis, and renal transplant recipients
Skin problems are common in kidney disease, with dry skin and itching in patients not on dialysis or on hemodialysis, and infections most common in transplant recipients.
research British Society for Paediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
research Ichtyosiform nevus in a 22-year-old woman
A woman with CHILD syndrome showed skin abnormalities, and the report suggests CHILD nevus and NEVIL might be the same condition, highlighting the need for diagnosis for genetic advice.
research Supplementary file 2_Association between alopecia areata and cardiovascular disease: a systematic review and meta-analysis.docx
Alopecia areata patients, especially with severe forms, have a higher risk of cardiovascular disease.
research Parry Romberg Syndrome: When the Diagnosis of a Rare Disease Is Made in the Primary Care Setting
Parry Romberg syndrome requires awareness and teamwork in primary care for proper diagnosis and management.