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.
This rare genetic disorder causes permanent hair loss and skin bumps from birth.
13 citations
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September 2011 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
23 citations
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July 2012 in “Calcified Tissue International” A single injection of PTH–CBD can increase bone density for up to a year.
3 citations
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April 2002 in “The Lancet” Painful hair loss in an elderly woman was caused by giant cell arteritis, not just aging.
January 2026 in “Dermatologic Therapy” Higher RBP4 levels are linked to severe alopecia areata, but genetic variant rs3758539 doesn't affect baricitinib response.
32 citations
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May 1986 in “Archives of Dermatology” The condition is likely inherited in an autosomal-dominant pattern.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A woman with rheumatoid arthritis had a unique type of scarring hair loss not caused by infection, requiring early treatment to avoid permanent hair loss.
December 2025 in “Cureus” Early diagnosis and treatment of calcinosis cutis in lupus patients is crucial due to its rarity and potential complications.
10 citations
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January 1995 in “Dermatology” Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
April 2026 in “Diagnostics” Parry–Romberg Syndrome can involve the brain even without obvious symptoms, and a new diagnostic framework is suggested for early detection.
363 citations
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May 2006 in “Current Opinion in Psychiatry” Anorexia and bulimia lead to serious health problems and increased risk of death, requiring aggressive treatment.
15 citations
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January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
June 2025 in “Preprints.org” EDA is vital for bone and cartilage formation and could help treat skeletal disorders.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
21 citations
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January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
1 citations
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May 2019 in “DOAJ (DOAJ: Directory of Open Access Journals)” Acrodermatitis enteropathica can be linked to dental issues, so thorough dental exams are important.
September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
January 2025 in “The Pediatric Infectious Disease Journal” Syphilis can cause unusual symptoms like hair loss and joint pain, but treatment is effective.
28 citations
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August 2000 in “Current Opinion in Chemical Biology” Future osteoporosis treatments should focus on increasing bone growth, with many promising options available.
3 citations
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March 1932 in “Journal of the American Medical Association” Radium exposure causes severe health issues, so strict safety measures are essential.
60 citations
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March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
March 2026 in “SKIN The Journal of Cutaneous Medicine” Ritlecitinib is being tested for safety and effectiveness in young children with severe alopecia areata.
November 2022 in “Journal of the Endocrine Society” Diagnosing osteoporosis in transgender people is challenging due to unclear guidelines and hormone treatment effects.
2 citations
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May 2006 in “Archives of Pathology & Laboratory Medicine” Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
June 2025 in “Acta Dermato Venereologica” Low-dose Ritlecitinib may help children with stubborn Alopecia Areata.
2 citations
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October 2023 in “Frontiers in Immunology” People with rheumatoid arthritis have a higher risk of developing alopecia areata.
January 1962 in “Archives of Dermatology” A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
October 2023 in “Journal of the Endocrine Society” Joint replacement surgery normalized high alkaline phosphatase levels in a patient with severe osteoarthritis.
September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” The twins' condition is unique and doesn't match any known syndromes.