11 citations
,
January 1989 Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
January 2025 in “Pediatrics in Review” The boy's symptoms improved with vitamin C treatment, highlighting the need to consider scurvy in kids with unusual diets.
1 citations
,
June 2022 in “Curēus” Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
2 citations
,
January 2008 in “International Journal of Neuroscience” A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
September 2015 in “Philippine Journal of Internal Medicine” Recognizing and treating overlap syndrome in connective tissue diseases is crucial.
10 citations
,
January 1994 in “Annals of Internal Medicine” CD4+ lymphocytopenia can occur in patients with systemic lupus erythematosus.
10 citations
,
May 1974 in “American journal of diseases of children” The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Scurvy still occurs today and can be diagnosed by symptoms like gum bleeding and a specific rash, confirmed by low vitamin C levels.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
2 citations
,
August 2012 in “Journal of the American Academy of Dermatology” Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
4 citations
,
January 2020 in “Indian dermatology online journal” Lichen simplex chronicus on the scalp can be diagnosed by specific hair and skin signs and treated with corticosteroids and therapy.
2 citations
,
March 2020 in “JAAD case reports” A leukemia patient showed skin peeling similar to kwashiorkor, a severe protein deficiency.
Early diagnosis and treatment of myositis in SLE patients lead to positive outcomes.
May 2025 in “The Journal of Rheumatology” SLE can cause unusual gastrointestinal symptoms, and immunosuppressive therapy can be effective.
1 citations
,
June 2019 in “Current developments in nutrition” A patient with Ehlers-Danlos Syndrome improved after treatment for fat malabsorption and essential fatty acid deficiency.
October 2017 in “The American Journal of Gastroenterology” Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.
May 2014 in “Clinical and Experimental Dermatology” A 70-year-old woman with a rare skin condition improved after treatment with topical steroids and acitretin.
1 citations
,
January 2024 in “Clinical Cosmetic and Investigational Dermatology” Recognizing and treating oral lichen sclerosus is important, but treatment guidelines are lacking.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
March 2018 in “The journal of applied laboratory medicine” The rash on the infant indicated a serious underlying condition.
13 citations
,
May 2014 in “PubMed” Most children with childhood-onset lupus in Baghdad responded well to treatment, but some developed chronic kidney disease or died.
10 citations
,
January 1997 in “Dermatology” Two siblings were diagnosed with Trichothiodystrophy, identified by brittle hair and low sulfur content.
1 citations
,
July 2024 in “JCEM Case Reports” A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
February 2012 in “World Allergy Organization Journal” Alopecia can be a symptom of Neonatal Lupus.
2 citations
,
August 2024 in “Molecular Genetics & Genomic Medicine” Biotin mega-dose therapy led to dramatic improvement in a newborn with a rare metabolic disorder.
2 citations
,
July 2022 in “Pediatric dermatology” A toddler with a rash and developmental delays improved after treatment for severe malnutrition caused by a diet lacking in protein.
2 citations
,
January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
1 citations
,
January 2020 in “Journal of Crohn's and colitis” Many people with inflammatory bowel disease have a vitamin C deficiency, which can lead to scurvy symptoms.
10 citations
,
November 2021 in “European Journal of Clinical Nutrition” Low iron levels can cause hair loss and restless legs in non-anemic women.
13 citations
,
July 2012 in “International Journal of Trichology” TTD symptoms vary widely, requiring thorough evaluations.