11 citations
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December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
December 2024 in “Indian Journal of Dermatology” Dermoscopy is useful for diagnosing Atrichia with Papular Lesions in children without needing a biopsy.
October 2024 in “Indian Journal of Dermatology” Early biopsy is crucial for diagnosing rare skin sarcoidosis, improving treatment.
2 citations
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May 2019 in “Journal of the American Academy of Dermatology” Facial hidradenitis suppurativa can be mistaken for acne but requires different treatment.
3 citations
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February 2002 in “The American journal of psychiatry” Stopping birth control pills may have triggered a manic episode in a woman with HAIR-AN syndrome.
6 citations
,
December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
12 citations
,
July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
February 2021 in “Journal of the Korean Ophthalmological Society” A 7-year-old girl had unusually long eyelashes with no known cause or related health issues.
1 citations
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January 2023 in “Annals of Indian Academy of Neurology” Recognizing CVG can help diagnose systemic amyloidosis early.
January 1998 in “The Nishinihon Journal of Dermatology” A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
June 2023 in “JAAD case reports” A rare scalp condition, cutis verticis gyrata, was found in a woman with primary scarring alopecia.
4 citations
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August 2002 in “British Journal of Ophthalmology” Surgical excision is the best treatment for SCC.
7 citations
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October 2020 in “Wiener medizinische Wochenschrift” THA is a rare condition with no significant clinical consequences if thyroid function is normal.
July 2023 in “Indian Journal of Sexually Transmitted Diseases and AIDS” "Moth-eaten alopecia" can be a sign of secondary syphilis, treatable with penicillin.
1 citations
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January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
6 citations
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January 2018 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” An 8-year-old girl with Rapunzel syndrome had a hairball removed from her stomach and intestines and recovered well after surgery.
20 citations
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October 2013 in “Dermatologic Surgery”
June 2016 in “American Journal of Cardiology” Hair loss may indicate higher risk of heart disease.
Removing silicone breast implants may improve symptoms of autoimmune/inflammatory syndrome.
16 citations
,
January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science” A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
20 citations
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October 2005 in “Archives of Dermatological Research” 2 citations
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April 2021 in “Journal of Mind and Medical Sciences” A man thought to have appendicitis actually had a rare pancreas-related condition.
6 citations
,
April 2012 in “Muscle & nerve” Recognizing the link between certain autoimmune disorders and neurological conditions can improve diagnosis and treatment.
9 citations
,
July 2016 in “Genes” Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
99 citations
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March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
February 2020 in “International Journal of Medical and Biomedical Studies” Adult acne is often mild and common on the cheek, with a low prevalence of PCOS in female patients, but more severe acne and skin damage in those with PCOS.
3 citations
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September 2021 in “The Medical Journal of Cairo University/The Medical Journal of Cairo University” Males with acne are more likely to have Metabolic Syndrome.
July 2011 in “Journal of Pediatric and Adolescent Gynecology” A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.
5 citations
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October 2018 in “Dermatologic therapy” Recognizing congenital triangular alopecia is crucial to avoid unnecessary treatments.
29 citations
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September 1942 in “Archives of ophthalmology” Vogt-Koyanagi syndrome often leads to partial or complete blindness and responds poorly to treatment.