10 citations
,
November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
January 2019 in “Przegląd Dermatologiczny” An 87-year-old woman was diagnosed with type 3 autoimmune polyendocrine syndrome and had multiple autoimmune issues.
February 2024 in “Veterinary sciences” Canine pemphigus foliaceus involves significant immune activity and shares similarities with human pemphigus.
22 citations
,
June 2004 in “Journal of The European Academy of Dermatology and Venereology” A woman had both Graham Little-Piccardi-Lassueur syndrome, causing hair loss, and complete androgen insensitivity syndrome, making her genetically male but physically female. This suggests androgens don't affect the hair loss condition.
May 2023 in “Zenodo (CERN European Organization for Nuclear Research)” Pyoderma gangrenosum can occur in rheumatoid arthritis patients and may be mistaken for vasculitis.
December 2022 in “Gastroenterology” A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.
9 citations
,
February 2002 in “International Journal of Dermatology” The patient's symptoms improved with treatment but recurred when the steroid dose was reduced, requiring ongoing therapy.
1 citations
,
August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
January 2024 in “JCEM case reports” This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
21 citations
,
July 2011 in “Journal of the American Academy of Dermatology” A man developed a rash similar to pityriasis rubra pilaris after starting sorafenib for cancer, possibly due to the drug's effect on skin cells.
42 citations
,
January 2003 in “International Journal of Gynecological Pathology” PEH in vulvar LS is common and needs careful diagnosis to avoid confusion with cancer.
January 2002 in “Linchuang pifuke zazhi” A young woman had a rare scalp tumor usually found in older women.
January 2022 in “Archivos españoles de urología” Post-finasteride syndrome is rarely linked to sexual and systemic side effects.
May 2022 in “Journal of Neurology Neurosurgery & Psychiatry” The woman's facial symptoms are best explained by primary Sjögren’s Syndrome.
3 citations
,
April 2019 in “Journal of the Endocrine Society” Satoyoshi syndrome can occur without causing premature ovarian failure.
10 citations
,
April 2003 in “Clinical neurology and neurosurgery” Autoimmune polyglandular syndrome can cause temporary brain issues that may improve on their own.
11 citations
,
September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
1 citations
,
September 2021 in “CRC Press eBooks” Frontal Fibrosing Alopecia is a hair loss condition mainly affecting postmenopausal women, with unclear causes and various clinical patterns.
32 citations
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August 2016 in “Science Signaling” Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
9 citations
,
July 1993 in “Archives of dermatology” Pityriasis amiantacea is a scalp condition with thick, greasy scales and sometimes hair loss.
May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” MITF+ melanoma patients are more likely to have multiple melanomas and unique skin patterns.
13 citations
,
September 2017 in “Skin appendage disorders” Some women with Frontal Fibrosing Alopecia also have Lichen Planopilaris, which can lead to more symptoms and affect hair outside the scalp.
3 citations
,
October 2001 in “British Journal of Ophthalmology” Rheumatoid arthritis can rarely cause bilateral facial nerve palsy linked to p-ANCA positive vasculitis.
July 2018 in “Nasza Dermatologia Online” Frontal fibrosing alopecia and ulerythema ophryogenes may be related and can evolve from one to the other.
July 2022 in “Research Square (Research Square)” Lower PPARγ levels and specific gene variations are linked to more severe Frontal Fibrosing Alopecia.
26 citations
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September 1969 in “The American journal of medicine” Cronkhite-Canada Syndrome often leads to death within 6-18 months.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
November 2016 in “Hair transplant forum international” The conclusion is that more research is needed to understand if the drug finasteride causes Post-Finasteride Syndrome or if it's due to individual genetic makeup.
1 citations
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December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.