1 citations
,
September 2020 in “Endocrinology, Diabetes & Metabolism Case Reports” The conclusion is that thorough investigation of hypertension and hormonal dysfunctions is important, and there may be a link between these conditions and cancer.
42 citations
,
September 1985 in “British Journal of Dermatology” Trichothiodystrophy causes abnormal protein deposits and distortion in hair follicles.
21 citations
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September 2013 in “Pediatric Dermatology” Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
January 2018 in “Karger Kompass” Skin symptoms like fragile skin and easy bruising can indicate Cushing's syndrome, which requires early diagnosis and treatment to prevent serious health issues.
July 2022 in “International Medical Case Reports Journal” The 6-year-old Somalian girl fully recovered from her symptoms after successful surgery and treatment.
65 citations
,
December 1986 in “The Journal of Clinical Endocrinology & Metabolism” The woman had a genetic condition causing high cortisol and androgen levels, treatable with dexamethasone.
26 citations
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March 2009 in “Dermato-endocrinology” The document concludes that diagnosing and treating Congenital Adrenal Hyperplasia is complex and requires a team approach due to its effects on the skin and other symptoms.
November 2025 in “Frontiers in Endocrinology” A rare tumor caused unusual hormone production leading to Cushing syndrome.
January 2013 in “Journal of dermatology” A new medical syndrome may include skin changes, hair loss, sweating issues, bone malformations, leg swelling, and low cortisol.
August 2023 in “Dermatology Reports” Acne not improved by usual treatments may indicate a genetic disorder.
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.
97 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
January 2024 in “Ankara City Hospital Medical Journal” Rhupus is a complex syndrome that combines rheumatoid arthritis and lupus, making diagnosis challenging.
February 2025 in “Cureus” Early diagnosis and treatment of NCCAH can improve symptoms and fertility.
1 citations
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April 2016 in “Journal of The American Academy of Dermatology” The study concludes that Loose Anagen Hair Syndrome is a benign condition that usually improves with age but can be hard to diagnose and stressful for the family.
November 2023 in “International Journal of Trichology” A rare form of lupus caused hair loss and skin bumps, diagnosed through biopsy, improved partially with treatment.
3 citations
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September 2013 in “Journal of the American Academy of Dermatology” A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
November 2022 in “Journal of the Endocrine Society” An 8-year-old boy's early puberty was caused by a rare hormone-secreting brain tumor, which was successfully treated with surgery.
2 citations
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
September 2015 in “Philippine Journal of Internal Medicine” Recognizing and treating overlap syndrome in connective tissue diseases is crucial.
7 citations
,
January 2017 in “Neuromuscular Disorders” A rare autoimmune condition, Satoyoshi syndrome, can start in adults and improve with immunosuppressive treatment.
13 citations
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October 2003 in “Clinical pediatrics” Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.
June 2024 in “British Journal of Dermatology” Black women with CCCA are more likely to have uterine fibroids.
January 2012 in “International Journal of Trichology” Two siblings have a rare genetic condition causing curly, coarse hair.
18 citations
,
January 1977 in “Annals of Nutrition and Metabolism” Genetic disorders can disrupt mineral and trace element metabolism, affecting health.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
January 2011 in “Revista Portuguesa de Endocrinologia Diabetes e Metabolismo” Congenital adrenal hyperplasia may be linked to adrenal myelolipoma.
1 citations
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August 2021 in “Canadian journal of neurological sciences” Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.