January 2018 in “Indian Dermatology Online Journal” A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
2 citations
,
June 2025 in “Medicina” Early diagnosis using eye tests and lab markers can improve treatment for pediatric Sjögren's syndrome.
February 2021 in “PubMed” A 2-year-old girl had a hair disorder not shared by her identical twin.
7 citations
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January 2016 in “Case reports in pediatrics” A girl with Becker's nevus syndrome showed good improvement in breast development using spironolactone.
April 2020 in “Journal of the Endocrine Society” Somatostatin analogues effectively manage ectopic ACTH syndrome when surgery isn't possible.
April 2014 in “Jurnal Biomedik : JBM” An 8-year-old girl had nail and hair issues that improved without specific treatment, but fungal nail infection was hard to cure.
44 citations
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May 1980 in “Archives of Dermatology” "20-nail dystrophy" can have multiple causes.
8 citations
,
January 2005 in “Acta Oto-Laryngologica” Ciclosporin might be a good alternative treatment for certain hearing loss that responds to steroids.
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
175 citations
,
December 1980 in “Archives of Dermatology” Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
1 citations
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October 2022 in “Rheumatology” RHUPUS should be considered in children with deforming arthritis.
January 2025 in “The Pediatric Infectious Disease Journal” Syphilis can cause unusual symptoms like hair loss and joint pain, but treatment is effective.
22 citations
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January 2008 in “Physiological Research” Steroid sulfatase is important for activating hormones that affect memory, brain function, and certain diseases, and could be a target for treating hormone-related disorders.
13 citations
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March 2013 in “The Laryngoscope” Botulinum toxin type A injections are the preferred treatment for Frey's syndrome after parotid surgery.
56 citations
,
January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
1 citations
,
June 2015 in “Australasian Journal of Dermatology” A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.
1 citations
,
January 2019 in “Open Journal of Internal Medicine” Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.
22 citations
,
January 1999 in “Dermatology” The condition might be caused by genetic changes after birth.
7 citations
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January 2014 in “Case reports in pediatrics” A baby's toe was severely damaged by a hair tourniquet, leading to bone and tendon damage, but improved after surgery and treatment.
August 2023 in “Gastroenterology” A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
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.
January 2022 in “Yonago Acta Medica” A woman got a skin condition from misusing a steroid cream, which improved after she stopped using it and started a new treatment.
August 2004 in “Journal of the American College of Surgeons” Several genes, including Hox-7A, Stra6, and Lim-1, are involved in normal palate formation.
10 citations
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April 2003 in “Clinical neurology and neurosurgery” Autoimmune polyglandular syndrome can cause temporary brain issues that may improve on their own.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
2 citations
,
February 2020 in “Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy” A woman experienced vertigo and hearing loss after weight loss surgery, possibly due to eustachian tube issues from fat loss around ear muscles.
32 citations
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January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
December 2025 in “International Journal of Dermatology” Björnstad syndrome can cause hair loss similar to androgenetic alopecia, and treatment with baricitinib and minoxidil may help.
1 citations
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March 2024 in “Pediatric Dermatology” Neonatal nasal injuries can heal with basic care but often leave scars.
1 citations
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February 2005 in “The Journal of Laryngology & Otology” A fungal infection in the neck caused severe breathing issues, treated successfully with antibiotics and antifungal medication.