5 citations
,
January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
55 citations
,
November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
February 2010 in “Journal of the American Academy of Dermatology” Umbilical cord blood transplantation improved the boy's symptoms despite complications.
November 2024 in “Rheumatology Advances in Practice” Visceral leishmaniasis can mimic rheumatoid arthritis symptoms, especially in immunocompromised patients.
2 citations
,
March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
April 2026 in “Zenodo (CERN European Organization for Nuclear Research)” Post-Exposure Syndromes are persistent conditions caused by past exposures, needing unique interventions.
April 2026 in “Zenodo (CERN European Organization for Nuclear Research)” Post-exposure syndromes are persistent conditions caused by past exposures, needing unique interventions.
1 citations
,
June 2021 in “Cureus” A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.
14 citations
,
January 2025 in “Reproductive Medicine and Biology” PCOS diagnosis and treatment should consider race and ethnicity for accuracy.
11 citations
,
December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
3 citations
,
January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
November 2023 in “Global Medical Genetics” Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
7 citations
,
August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
1 citations
,
January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” Hypothyroidism may worsen metabolic problems like insulin resistance and obesity in women with PCOS.
32 citations
,
January 1971 in “Annals of Internal Medicine” People with anhidrotic ectodermal dysplasia may get severe bronchitis if exposed to dust.
62 citations
,
January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
47 citations
,
February 2015 in “European Journal of Clinical Investigation” The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
35 citations
,
March 2012 in “Experimental and Clinical Endocrinology & Diabetes” The conclusion is that accurately identifying the cause of high androgen levels in women with PCOS is crucial and requires specific tests.
13 citations
,
June 2020 in “International Journal of Dermatology” A rare scalp condition mainly in older women can be treated with various alternatives to steroids, which may have fewer side effects.
February 2026 in “Pediatric Dermatology”
2 citations
,
May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
5 citations
,
January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
8 citations
,
November 2009 in “The Neurologist/The neurologist” If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
February 2024 in “International Journal of Dermatology” Cryptococcoid Sweet syndrome can be linked to hydralazine use and multiple autoantibodies, requiring high clinical suspicion and more research.
27 citations
,
March 2018 in “Allergy and asthma proceedings” People with alopecia areata often have higher rates of allergies and autoimmune diseases.
May 2023 in “Karnataka Pediatric Journal” Early diagnosis and aggressive treatment are crucial for managing SLE-related pancreatitis in children.
Psoriasis is linked to a higher risk of autoimmune diseases and other health conditions.
33 citations
,
August 2013 in “Lupus” SLE patients in eastern Saudi Arabia have a generally good prognosis despite multi-organ involvement.
March 2023 in “Journal of Pakistan Society of Internal Medicine.” Lupus enteritis is a rare but serious gut inflammation in lupus patients, often hard to diagnose without prior lupus symptoms.
February 2026 in “Immunity Inflammation and Disease” Recognizing unusual skin, eye, or hair issues can help diagnose immune system disorders early, especially in children.