39 citations
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January 2012 in “Reproductive Biology and Endocrinology” About 8.5% of women in Salvador, Brazil, have Polycystic Ovary Syndrome.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
July 2023 in “Clinical and Experimental Dermatology” Combining baricitinib with low-dose corticosteroids significantly improved severe hair loss in eight patients.
18 citations
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June 2016 in “Clinical and Experimental Dermatology” Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
July 2021 in “Authorea (Authorea)” Graham-Little Piccardi Lassueur Syndrome is a rare skin condition with specific hair loss and skin symptoms.
September 2025 in “OBM Genetics” Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
16 citations
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January 2014 in “Obesity surgery” Vertical sleeve gastrectomy improved metabolism, behavior, and reproduction in obese rats with PCOS.
1 citations
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January 2018 in “Acta dermato-venereologica” A teenager's hair with alternating white and dark bands, known as Pili annulati, is a genetic condition that is usually harmless and often considered attractive.
November 2025 in “SKIN The Journal of Cutaneous Medicine” Baricitinib works better in adolescents than adults for treating severe alopecia areata.
8 citations
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November 2009 in “The Neurologist/The neurologist” If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
2 citations
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August 2014 in “PubMed” Losartan may help treat Postural Orthostatic Tachycardia Syndrome (POTS) symptoms.
June 2024 in “Neuromuscular Disorders” Baricitinib successfully treated myasthenia gravis and alopecia in a patient.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
26 citations
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June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
February 2013 in “Journal of The American Academy of Dermatology” Oral propranolol successfully treated a baby's skin growth and ulceration linked to PELVIS syndrome.
August 2020 in “International Journal of Research in Dermatology” Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
Basaloid follicular hamartoma is a rare, benign skin growth often misdiagnosed.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
56 citations
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March 2010 in “Journal of Dermatology” Most cases of Temporal Triangular Alopecia are found in early childhood and may be related to genetic conditions.
1 citations
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March 2000 in “PubMed” A 16-year-old boy's alopecia areata progressed unusually to resemble male pattern baldness.
2 citations
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February 2021 in “Endocrinology, diabetes & metabolism case reports” A teenage girl had both a rare ovarian tumor and a severe form of polycystic ovarian syndrome.
15 citations
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April 2007 in “Journal of child neurology” An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
2 citations
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June 2021 in “RECERCAT (Consorci de Serveis Universitaris de Catalunya)” Clear definitions and strategies are needed to manage long-term COVID-19 symptoms effectively.
December 2020 in “TURKDERM” A 3-year-old boy was diagnosed with a rare, non-scarring hair loss condition called temporal triangular alopecia.
3 citations
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September 2013 in “Journal of the American Academy of Dermatology” A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
21 citations
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March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
1 citations
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November 2023 in “Journal of the European Academy of Dermatology and Venereology” Baricitinib helps with early hair regrowth in people with alopecia areata.
September 2024 in “Journal of the European Academy of Dermatology and Venereology” Baricitinib effectively reduces hair loss in severe alopecia areata with mild side effects.