September 2015 in “Philippine Journal of Internal Medicine” Recognizing and treating overlap syndrome in connective tissue diseases is crucial.
16 citations
,
July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
October 2021 in “European journal of cancer” Repeated biopsies are crucial for managing lupus panniculitis when initial treatments fail.
32 citations
,
July 2001 in “Journal of the American Academy of Dermatology” SLHA can be hard to diagnose and needs teamwork between specialists.
40 citations
,
March 1984 in “Acta dermato-venereologica” Etretinate has only moderate effects on localized scleroderma and lichen sclerosus.
October 2024 in “Indian Journal of Dermatology” Early biopsy is crucial for diagnosing rare skin sarcoidosis, improving treatment.
January 1982 in “Japanese Journal of Clinical Immunology” Soft-tissue calcification is rare in systemic lupus erythematosus.
44 citations
,
September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
4350 citations
,
May 2012 in “Arthritis & Rheumatism” The new SLICC criteria for diagnosing lupus are more sensitive and accurate than the old criteria.
41 citations
,
May 2020 in “Frontiers in immunology” Hidradenitis suppurativa might be a type of autoinflammatory skin disease.
January 2024 in “Revista Dermatológica Centro Uraga” The patient has Chronic Cutaneous Lupus, a skin condition causing plaques and hair loss.
May 2022 in “Journal of Neurology Neurosurgery & Psychiatry” The woman's facial symptoms are best explained by primary Sjögren’s Syndrome.
January 2025 in “Frontiers in Immunology” IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.
December 2019 in “The American Journal of Gastroenterology” Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.
November 2021 in “Circulation” SCAD can indicate ANA-negative lupus, especially in women with unusual symptoms.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Two sisters with lipoedematous scalp suggest a genetic influence in the condition.
April 2023 in “Plastic Surgery” Fat grafting is safe and effective in both active and stable phases of localized scleroderma.
14 citations
,
March 2014 in “Journal of The American Academy of Dermatology” Symmetrical Acrokeratoderma (SAK) may be a unique skin condition in China, lacking specific treatment and needing long-term monitoring.
15 citations
,
October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
36 citations
,
December 2004 in “British Journal of Dermatology” The cyst had unusual keratin spherules and resembled bone marrow.
April 2024 in “Indian dermatology online journal” A rare hair follicle disorder can cause itchy, bluish-black bumps on the body.
October 2022 in “Boletín médico del Hospital infantil de México/Boletín médico del Hospital Infantil de México” The patient has a rare skin condition that shows features of two known disorders.
April 2023 in “Journal of Investigative Dermatology” Psoriasis patients did not show more brain atrophy or small vessel disease than controls, but longer psoriasis duration was linked to more brain atrophy.
87 citations
,
March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
55 citations
,
November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
11 citations
,
January 2022 in “Experimental Dermatology” Severe CCCA may be biologically and clinically different from milder forms.
23 citations
,
February 2003 in “British Journal of Dermatology” A rare type of skin lymphoma was identified, affecting hair follicles and sweat glands.
April 2020 in “Journal of the Endocrine Society” Type 3 acromegaly patients have more health issues and higher death risk.
10 citations
,
February 2022 in “JEADV Clinical Practice” Dermoscopy helps diagnose and classify rosacea by revealing key features.
5 citations
,
July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.