February 2021 in “PubMed” A 2-year-old girl had a hair disorder not shared by her identical twin.
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
6 citations
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December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)” Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.
August 2025 in “Biomedicines” Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.
July 2023 in “Clinical, cosmetic and investigational dermatology” Plica neuropathica can be a sign of schizophrenia and improves with antipsychotic treatment.
August 2016 in “Journal of the American Academy of Dermatology” The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
2 citations
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May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
June 2026 in “The Journal of Dermatology” 1 citations
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October 2023 in “European Journal of Dermatology” Combining hair transplantation with PRP is more effective for treating hair loss than hair transplantation alone.
March 2026 in “Dermatology Online Journal” Cystic panfolliculoma is a rare, harmless tumor that can be confused with other skin tumors.
October 2023 in “The American Journal of Gastroenterology” Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.
4 citations
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March 1999 in “International Journal of STD & AIDS” Netherton's syndrome can cause frequent bacterial infections beyond just skin issues.
1 citations
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September 2002 in “European Journal of Endocrinology” Triple H syndrome exists and can vary in symptoms.
May 2014 in “JAMA Dermatology” Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
August 2025 in “Frontiers in Immunology” Bullous pemphigoid, intrahepatic cholangiocarcinoma, and alopecia areata may share immune-related causes.
August 2025 in “Brazilian Journal of Hair Health” Hair-related body dysmorphic disorder is common in hair loss patients and needs early recognition for proper treatment.
5 citations
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March 2010 in “International Journal of Dermatology” Accurate diagnosis of basaloid follicular hamartoma is crucial to avoid unnecessary treatments.
17 citations
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January 2015 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.
1 citations
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January 2023 in “Annals of Dermatology” The BASP classification helps predict patient behavior and improve treatment for hair loss.
3 citations
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May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
2 citations
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March 2018 in “INDONESIAN JOURNAL OF CLINICAL PATHOLOGY AND MEDICAL LABORATORY” A pregnant woman with Cushing Syndrome got worse and sadly passed away.
72 citations
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October 1988 in “Archives of Disease in Childhood” Biotin treatment improves symptoms of biotinidase deficiency, but some neurological damage may be permanent.
7 citations
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January 2016 in “Case reports in pediatrics” A girl with Becker's nevus syndrome showed good improvement in breast development using spironolactone.
5 citations
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May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
October 2025 in “Journal of the Endocrine Society” A rare pituitary tumor in an 18-year-old male caused hormonal issues and vision loss, requiring surgery and further treatment.
2 citations
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June 2013 in “Journal of Dermatological Case Reports” Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
Genetic factors might cause fibrosing alopecia linked to hair shaft abnormalities.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.