A thorough diagnostic process and teamwork are crucial for managing complex hyperandrogenism in postmenopausal women.
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.
98 citations
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July 1983 in “Journal of Steroid Biochemistry” Individuals with this condition often develop male traits and identities at puberty despite being raised as females.
September 2024 in “The Neurohospitalist” Careful management of chronic hyponatremia is crucial to prevent severe neurological issues.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
April 2019 in “Journal of the Endocrine Society” A 12-year-old boy with PAIS successfully developed male characteristics using high-dose testosterone and anastrozole.
15 citations
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September 2018 in “Medicine” Childhood ptosis can vary from a minor cosmetic issue to a serious condition and may signal other health problems.
2 citations
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June 2020 in “Dermatology and therapy” Narrowband-UVB phototherapy successfully treated a rare case of Graham Little-Piccardi-Lassueur syndrome.
56 citations
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January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
1 citations
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April 2018 in “Infectious diseases in clinical practice” Travel history and tick-borne diseases should be considered in unexplained fevers for timely diagnosis and treatment.
12 citations
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July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
2 citations
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August 2017 in “British Journal of Dermatology” Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.
4 citations
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December 2020 in “Neuropsychiatric Disease and Treatment” Women with skin conditions who have body image concerns often experience mental health issues and a lower quality of life.
19 citations
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July 2004 in “Journal of Medical Primatology” Infant baboons suffered from zinc poisoning due to poor cage conditions.
September 2024 in “Egyptian Journal of Medical Human Genetics” Consider NF1 in newborns with rare congenital anomalies.
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.
October 2022 in “International journal of research in dermatology” A woman with lupus had unusual symptoms like blisters, skin inflammation, and throat ulcers, which improved with steroid and dapsone treatment.
1 citations
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January 2022 in “Springer eBooks” A 29-year-old woman with symptoms of both lupus and rheumatoid arthritis improved with specific medications.
2 citations
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January 2021 in “Case reports in endocrinology” The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
May 2024 in “International journal of medicine and psychology.” Ganser syndrome may result from both organic and psychogenic factors.
28 citations
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July 2017 in “Journal of Endocrinological Investigation” Early onset baldness in men may indicate a condition similar to PCOS, linked to heart disease, diabetes, and prostate issues.
February 2024 in “Rheumatology & autoimmunity” Lupus can cause unusual vision problems, so it's important to consider it in such cases.
1 citations
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January 2023 in “Annals of Indian Academy of Neurology” Recognizing CVG can help diagnose systemic amyloidosis early.
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.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
May 2015 in “European Journal of Paediatric Neurology” ECCL should be considered in patients with specific skin and eye lesions.
5 citations
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October 2003 in “PubMed” Hormonal therapy is essential in late-diagnosed Kallmann's syndrome to prevent bone issues.
2 citations
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February 2023 in “Actas Dermo-Sifiliográficas” Baricitinib effectively improved both atopic dermatitis and alopecia areata symptoms in a patient.
8 citations
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November 1990 in “Archives of Dermatology” A woman with EMS showed unusual skin mucinosis without the typical hard skin syndrome, suggesting EMS can cause skin mucinosis.