6 citations
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May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
September 2021 in “CRC Press eBooks” CCCA is a common hair loss condition in African American women, often inherited and influenced by hairstyling, with unique scalp features detectable by special tools.
September 2024 in “Journal of the American Academy of Dermatology” Early intervention is important for limited systemic sclerosis patients due to higher pain and ulceration risks.
110 citations
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November 1984 in “The American Journal of Medicine” A genetic defect in vitamin D receptors causes severe rickets and hair loss in children, but some heal as they age.
3 citations
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June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
December 2025 in “PubMed” Iron deficiency is linked to hair loss in adolescents, especially females, in northern Sudan.
January 2019 in “Galicia Clínica” A patient in Portugal with chronic pulmonary histoplasmosis had a complex medical history and environmental exposures.
148 citations
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May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
7 citations
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June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
4 citations
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October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
January 2023 in “World Journal of Clinical & Medical Images” Early diagnosis and prednisone treatment can improve outcomes in Cronkhite-Canada syndrome.
54 citations
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December 2011 in “American Journal Of Pathology” A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.
July 2017 in “ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS” Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
11 citations
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May 2020 in “Anais Brasileiros de Dermatologia” Dermoscopy helps diagnose syphilitic alopecia, and treatment with penicillin can regrow hair.
180 citations
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October 2019 in “British journal of haematology” Early detection and treatment of iron deficiency in pregnancy are crucial for maternal and infant health.
Certain KIR genes in Indian SLE patients are linked to disease severity and could be biomarkers.
2 citations
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January 1989 Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
4 citations
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January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
13 citations
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June 2013 in “Actas Dermo-Sifiliográficas” Syphilitic alopecia, linked to syphilis and high-risk sexual behavior, improves with penicillin treatment.
10 citations
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March 2019 in “Human Genetics” A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
8 citations
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August 2013 in “Pediatric Dermatology” Loose Anagen Hair Syndrome is found in black-haired Indian children and is often missed, especially in boys.
August 2018 in “Journal of The American Academy of Dermatology” A 54-year-old man with painful skin blisters and fever was diagnosed with Sweet syndrome and successfully treated with corticosteroids.
November 2025 in “Figshare” SQSTM1 is linked to increased risk of alopecia areata.
19 citations
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July 2020 in “EBioMedicine” A gene variant increases the risk of a type of hair loss by affecting hair protein production.
November 2021 in “European Heart Journal Supplements” A woman with lupus had right heart failure due to blood clots in her lungs, but treatment improved her condition.
October 2017 in “The American Journal of Gastroenterology” Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.
January 2014 in “Revue des Maladies Respiratoires” Severe sarcoidosis often requires long-term systemic corticosteroids and multidisciplinary care, with most patients improving but some experiencing persistent symptoms or complications.
7 citations
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April 2020 in “JIMD Reports” ATP6AP1‐CDG can cause hearing loss, hair loss, and protein issues, even in female carriers.
1 citations
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November 2024 in “Diabetes Metabolic Syndrome and Obesity” A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
6 citations
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September 2024 in “Current Oncology” Sacituzumab Govitecan is effective for certain breast cancers but requires careful management of side effects.