October 2023 in “Indian dermatology online journal” The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
1 citations
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December 2023 in “Indian Dermatology Online Journal” Steatocystoma multiplex causes recurring skin cysts and needs early recognition for better management.
August 2018 in “Journal of The American Academy of Dermatology” A 54-year-old man with painful skin blisters and fever was diagnosed with Sweet syndrome and successfully treated with corticosteroids.
October 2025 in “Journal of the Endocrine Society” Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.
June 2023 in “British Journal of Dermatology” Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
April 2021 in “Rheumatology” An 80-year-old man with COVID-19 also had constrictive pericarditis, possibly due to an autoimmune or immunoglobulin related disease, and improved after surgery.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
April 2021 in “Sri Lanka Journal of Diabetes Endocrinology and Metabolism” Giant pituitary macroadenomas causing Cushing disease are rare and may need extra treatment if surgery fails.
3 citations
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
38 citations
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June 2005 in “International Journal of Dermatology” A man with nevus comedonicus syndrome had multiple skin issues, including basal cell carcinomas, which improved with treatment.
December 2016 in “Springer eBooks” Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
83 citations
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May 2011 in “European Journal of Dermatology” Corneodesmosin is crucial for skin and hair health, and its dysfunction can cause skin and hair disorders.
January 2017 in “International journal of biomedical engineering and clinical science” Cri-du-chat syndrome can cause skin and oral lesions affecting nutrition and quality of life.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
2 citations
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January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
2 citations
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May 2022 in “International journal of trichology” Plica neuropathica is a tangled hair condition that may be caused by hair damage or psychiatric issues and is treated by cutting the hair and addressing mental health.
1 citations
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July 2012 in “Nasza Dermatologia Online” CCCA may be caused by both hair traction and an immune response.
August 2023 in “Journal of the American Academy of Dermatology” The letter suggests that the study's comparison group might have affected the results and calls for larger, more detailed future research.
60 citations
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August 2009 in “Journal of the American Academy of Dermatology” The term "porokeratotic adnexal ostial nevus" is proposed to unify overlapping skin conditions involving eccrine and hair follicles.
3 citations
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January 2019 in “Cureus” Hormonal imbalances in Polycystic Ovarian Syndrome (PCOS) might trigger a rare skin disorder called Confluent and Reticulated Papillomatosis (CRP), so dermatologists should consider checking for PCOS in CRP patients.
January 2018 in “Karger Kompass” Skin symptoms like fragile skin and easy bruising can indicate Cushing's syndrome, which requires early diagnosis and treatment to prevent serious health issues.
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
March 2024 in “Residência Pediátrica” An infant developed excessive hair growth after a bone marrow transplant and cyclosporine treatment.
March 2024 in “Journal of Investigative Dermatology” People with Primary Cicatricial Alopecia have a higher risk of heart disease.
3 citations
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July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
October 2022 in “Boletín médico del Hospital infantil de México/Boletín médico del Hospital Infantil de México” The patient has a rare skin condition that shows features of two known disorders.
November 2022 in “Journal of the Endocrine Society” A woman with ectopic Cushing's syndrome and COVID-19 passed away despite treatment.
29 citations
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June 2010 in “The Journal of Dermatology” Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.