8 citations
,
July 2024 in “PLoS ONE” Botryococcus braunii's three chemical races should be reclassified as separate species.
4 citations
,
May 2019 in “Asian Journal of Pharmaceutical Sciences” Created tablet similar to Avodart using γ-cyclodextrin and solubilizers.
3 citations
,
October 1994 in “Journal of Labelled Compounds and Radiopharmaceuticals” Scientists made a carbon-14 labeled version of a drug with a 48% yield and over 99% purity.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A woman's rare hair loss condition improved on its own, suggesting this type might recover like common cases.
October 2022 in “The American journal of gastroenterology” Thymoma-associated multiorgan autoimmunity can cause liver damage and affects multiple organs, with limited treatment options and a generally poor prognosis.
1 citations
,
January 2019 in “Springer eBooks” Hidradenitis Suppurativa is a chronic skin condition best treated early with surgery for better outcomes and less recurrence.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
January 2024 in “Indian Journal of Paediatric Dermatology” A rare case links early-onset alopecia universalis and nephrotic syndrome, suggesting genetic immune issues.
12 citations
,
March 2004 in “International Journal of Dermatology” A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
The case shows the difficulty in diagnosing certain conditions when standard tests are negative.
3 citations
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April 2002 in “The American Journal of Medicine” The document concludes that early diagnosis of Balint's syndrome is crucial for effective treatment and that understanding drug interactions, like between ritonavir and statins, is important for patient care.
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.
September 2025 in “Indian Journal of Child Health” Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
16 citations
,
January 2010 in “American Journal of Neuroradiology” Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
32 citations
,
January 2006 in “Acta dermato-venereologica” SACUMAN, a rare condition causing hair loss without clear signs, is often misdiagnosed and needs scalp biopsies for accurate detection.
1 citations
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July 2023 in “Clinical Cosmetic and Investigational Dermatology” Familial dyskeratotic comedones are a rare, benign skin disorder that is hard to treat.
13 citations
,
April 1994 in “Baillière's clinical endocrinology and metabolism” Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
2 citations
,
January 1998 in “Neurourology and Urodynamics” AMN can cause bladder problems due to nerve damage.
4 citations
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January 2015 in “Case reports in urology” An 8-year-old boy recovered from a rare case of penile tourniquet syndrome after hair removal surgery.
January 2025 in “Human Reproduction Open” 25% of premenopausal women with Type 1 diabetes have undiagnosed androgen excess disorders.
9 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” The document discusses various eye conditions and their treatments, including a rare eye cancer in a baby, vision loss from a cancer drug, cataracts from a baldness treatment, a rare skin disorder, and a specific type of eye disease diagnosed with a special imaging technique.
June 2021 in “International journal of research in dermatology” A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.
August 2023 in “Journal of inflammation research” An elderly Chinese man lost all his hair after taking a new heart medication.
15 citations
,
May 2010 in “Pediatrics in Review” Delayed puberty often runs in families, can affect growth, and may need hormone treatment.
July 2021 in “Advances in laboratory medicine” Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
1 citations
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January 2016 in “Dermatology Online Journal” Triangular temporal alopecia can occur in adults and should be correctly identified to prevent misdiagnosis.
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.
1 citations
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August 2011 in “Dermatology Reports” Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
April 2024 in “African Journal of Biological Sciences” The patient with lupus and Degos' disease showed significant improvement with treatment.