28 citations
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November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
19 citations
,
July 2004 in “Journal of Medical Primatology” Infant baboons suffered from zinc poisoning due to poor cage conditions.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Two sisters with lipoedematous scalp suggest a genetic influence in the condition.
1 citations
,
September 2002 in “European Journal of Endocrinology” Triple H syndrome exists and can vary in symptoms.
5 citations
,
January 2017 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
August 2024 in “Journal of Dermatology & Cosmetology” Acitretin effectively prevented skin cancer in a patient with late-onset Rothmund-Thomson syndrome.
22 citations
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May 2005 in “Journal of the European Academy of Dermatology and Venereology” People with Down syndrome are more likely to have alopecia areata and need regular skin check-ups.
6 citations
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June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
The document concludes that the girl's hairlessness is likely inherited from her parents.
6 citations
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June 2019 in “International Journal of Dermatology” Frontal fibrosing alopecia has occurred in two related male families.
4 citations
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January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
17 citations
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December 2009 in “Journal of Pediatric Orthopaedics” Two babies needed surgery to remove hair tightly wrapped around their toes to prevent serious injury.
October 2024 in “Journal of the Endocrine Society” Type B Insulin Resistance Syndrome is rare, linked to lupus, and hard to treat due to severe insulin resistance.
April 2012 in “Journal of evolution of medical and dental sciences” No effective treatment exists to stimulate hair growth in atrichia with papular lesions.
8 citations
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July 2014 in “Anais Brasileiros de Dermatologia” A man's scalp condition was misidentified as hair loss dots but was actually a common follicular disorder.
26 citations
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September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
February 2026 in “The Laryngoscope” Airway issues can occur in Conradi–Hünermann–Happle syndrome and can be managed with minimally invasive procedures.
July 2022 in “European Journal of Dermatology” Brodalumab is more effective than ustekinumab in treating psoriasis.
January 2025 in “Skin Health and Disease” Baricitinib may effectively treat both alopecia areata and immune thrombocytopenia.
184 citations
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August 1983 in “The journal of pediatrics/The Journal of pediatrics” Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
2 citations
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April 2023 in “Expert Review of Clinical Immunology” Baricitinib is effective as a treatment for severe hair loss.
November 2025 in “SKIN The Journal of Cutaneous Medicine” Baricitinib significantly regrows hair in teens with severe alopecia areata.
13 citations
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June 2012 in “European journal of medical genetics” Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
Genetic testing can help diagnose skin conditions but needs more research for full effectiveness.
January 2007 in “Linchuang pifuke zazhi” A 15-year-old boy had a rare skin growth on his buttock.
December 2020 in “Pathology” A man's skin condition and poor diet led to a scurvy diagnosis.
September 2024 in “Journal of the American Academy of Dermatology” Baricitinib 4 mg is effective and safe for treating severe alopecia areata.
15 citations
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October 1996 in “Archives of Dermatology” Researchers identified a new hair loss pattern called "sisaipho type," where hair is lost across the scalp except around the edges.