16 citations
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July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
Improved nutrition quickly healed the patient's skin lesions.
November 2025 in “Clinical Cosmetic and Investigational Dermatology” Tattoos may trigger autoimmune symptoms in some people.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
47 citations
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March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
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.
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.
November 2024 in “JAAD Case Reports” A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
December 2020 in “International journal of medical science and clinical invention” Rapunzel syndrome can show vague symptoms and needs long-term psychiatric care to prevent recurrence.
October 2017 in “The American Journal of Gastroenterology” Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.
1 citations
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January 2015 in “Advanced techniques in biology & medicine” Down Syndrome patients with Alopecia Areata often have hypothyroidism and specific immune abnormalities.
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.
1 citations
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September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
November 2021 in “Circulation” SCAD can indicate ANA-negative lupus, especially in women with unusual symptoms.
1 citations
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January 2016 in “Australasian Journal of Dermatology” A rare genetic mutation caused unusual skin symptoms in a man with Blau syndrome.
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.
1 citations
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January 2019 in “Via Medica Journals” Graham-Little syndrome causes hair loss and skin bumps, with difficult treatment options.
November 2022 in “Frontiers in pediatrics” A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
December 2022 in “Gastroenterology” A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.
November 2022 in “JAAD case reports” The text talks about a rare skin condition causing hair loss and suggests that people with this should also check their lung and heart health.
1 citations
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July 2017 in “PubMed” Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
2 citations
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January 2014 in “Case Reports in Clinical Medicine” Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.
2 citations
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August 2014 in “Journal of the American Academy of Dermatology” A rare case of scleredema in a diabetic woman showed loss of sweat glands, causing heat strokes, with treatment only slightly improving symptoms.
12 citations
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July 1979 in “International Journal of Dermatology” A patient with zinc depletion improved after zinc supplementation during parenteral nutrition.
1 citations
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July 2024 in “Indian Journal of Case Reports” GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
August 2020 in “Research Square (Research Square)” Active treatment can help prevent scarring hair loss in SLE patients.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
124 citations
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January 1995 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
May 2022 in “Journal of Neurology Neurosurgery & Psychiatry” The woman's facial symptoms are best explained by primary Sjögren’s Syndrome.
January 2022 in “Indian Journal of Paediatric Dermatology” A 13-year-old girl was diagnosed with juvenile lupus, showing only hair loss as a symptom.