October 2024 in “Journal of the Endocrine Society” A single steroid injection can cause serious side effects like Cushing Syndrome.
4 citations
,
September 2010 in “Journal of Medical Case Reports” A man developed autoimmune issues after a transplant, improved with treatment, but died from leukemia relapse.
2 citations
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January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
May 2026 in “Journal of Pharmacognosy and Phytochemistry” PCOS is now seen as a complex metabolic and hormonal disorder called PMOS.
April 2023 in “Journal of Investigative Dermatology” Using DNase enzymes to break down harmful NETs could be a new treatment for Stevens-Johnson syndrome and toxic epidermal necrolysis.
4 citations
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December 2013 in “International Journal of Dermatology” Three children with nasal fungal infections were successfully treated with potassium iodide and sometimes itraconazole.
December 2024 in “Journal of Maxillofacial and Oral Surgery”
March 2024 in “Residência Pediátrica” An infant developed excessive hair growth after a bone marrow transplant and cyclosporine treatment.
4 citations
,
June 2020 in “DOAJ (DOAJ: Directory of Open Access Journals)” A woman with Rhupus and Rowell syndrome was treated successfully with medication adjustments.
Onychomatricoma is a unique nail tumor, not related to other hair-related tumors.
28 citations
,
June 1998 in “Clinical Genetics” Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
1 citations
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December 2012 in “Clinical and Experimental Dermatology” A rare calcium deposit condition was found on a man's scalp.
January 2025 in “Journal of Clinical Case Studies” Undiagnosed Marfan syndrome can lead to serious health issues, so genetic counseling and avoiding heavy lifting are crucial.
65 citations
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June 2003 in “EMBO journal” Noggin overexpression delays eyelid opening by affecting cell death and skin cell development.
April 2019 in “International journal of research in dermatology” A child with rough nails also had hair loss and allergies.
October 2013 in “European Orthopaedics and Traumatology” A woman's hair grew back within 3 months after temporary hair loss from improper head positioning during shoulder surgery.
2 citations
,
June 2012 in “American Journal of Dermatopathology” A rare neck cyst in a 47-year-old man showed diverse skin cell types and was not linked to HPV.
3 citations
,
June 2020 in “Open access rheumatology” A patient with Rhupus was diagnosed with Rowell syndrome and treated with various medications.
July 2021 in “British Journal of Dermatology” The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.
32 citations
,
July 2001 in “Journal of the American Academy of Dermatology” SLHA can be hard to diagnose and needs teamwork between specialists.
1 citations
,
January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
7 citations
,
March 2023 in “Gynecological Endocrinology” After tumor removal, the woman regained normal hormone levels, menstruated, and had a healthy baby.
A woman's Cushing's syndrome caused by adrenal cancer improved after surgery.
November 2019 in “European journal of internal medicine” A Laotian man with unusual skin changes and multiple growths in his gut was diagnosed with Cronkhite-Canada Syndrome and improved with nutritional and immune-based treatments.
June 2023 in “Romanian Medical Journal” The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
74 citations
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October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
25 citations
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October 2018 in “Journal of The American Academy of Dermatology” Erosive pustular dermatosis of the scalp is a type of skin inflammation often confused with other conditions, requiring continuous treatment.
May 2012 in “Research and reports in neonatology” The newborn with Klippel-Trénaunay syndrome was healthy but needed regular check-ups for possible complications.
4 citations
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December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.