6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
January 2018 in “Indian Dermatology Online Journal” A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
A neck lesion misdiagnosed as benign was later treated successfully with Mohs Micrographic Surgery.
1 citations
,
January 2025 in “Frontiers in Immunology” Genetically at-risk healthy people show similar immune issues as those with Pemphigus vulgaris or Alopecia areata.
10 citations
,
December 2018 in “Internal Medicine” Myasthenia gravis can affect both motor and non-motor systems due to immune system issues.
5 citations
,
March 2015 in “Clinical and Experimental Dermatology” Chemotherapy caused a woman's permanent hair loss and early menopause.
4 citations
,
January 2019 in “Obstetrics & gynecology science” A PET-CT scan successfully located a hard-to-find Leydig cell tumor in a woman with hormonal symptoms.
2 citations
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May 2024 in “International Journal of Dermatology”
October 2014 in “Aktuelle Dermatologie” A 19-year-old with MRKHS developed complete hair loss, and treatment options were discussed.
28 citations
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October 2010 in “Targeted Oncology” Trastuzumab may cause tufted hair folliculitis as a side effect.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
3 citations
,
May 2012 in “BMC Endocrine Disorders” Early diagnosis and hormone therapy can significantly improve outcomes for post-partum pituitary insufficiency in resource-limited settings.
5 citations
,
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
3 citations
,
March 2013 in “American Journal of Dermatopathology” Ossification in trichilemmal cysts is more common than previously believed.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
November 2025 in “Journal of Saidu Medical College Swat” Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.
3 citations
,
November 2021 in “Protein and Peptide Letters” β-thymosin in invertebrates is more complex and diverse than in vertebrates.
8 citations
,
July 1980 in “Archives of Dermatology” Hidden sweat gland tumors might cause hair loss.
1 citations
,
September 2017 in “Zhonghua neifenmi daixie zazhi” Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
April 2024 in “Current Rheumatology Reviews” MCTD should be considered in children with recurring muscle issues, lupus-like symptoms, and edema.
6 citations
,
April 2012 in “Muscle & nerve” Recognizing the link between certain autoimmune disorders and neurological conditions can improve diagnosis and treatment.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
7 citations
,
August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
6 citations
,
February 2023 in “Lara D. Veeken” Satoyoshi syndrome is likely an autoimmune disease.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
January 2015 in “The Annals of Clinical and Analytical Medicine” Patients with alopecia areata had higher TSH levels.
February 2026 in “Molecular Imaging and Radionuclide Therapy” High-dose radioactive iodine therapy does not harm fertility in thyroidectomy patients.
12 citations
,
January 2016 in “Endocrinology, diabetes & metabolism case reports” Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
3 citations
,
October 1994 in “Journal of Dermatological Science” The new antibody, TYHF-1, specifically targets certain hair-related structures.
71 citations
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May 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” TTD hair brittleness is caused by multiple structural abnormalities.