85 citations
,
March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
1 citations
,
February 2015 in “Revista Acadêmica Ciência Animal” A mare had a functional ovary with a tumor containing cartilage and bone.
January 2016 in “ACG Case Reports Journal” A girl with Rapunzel syndrome had surgery to remove a hairball, and addressing mental health is important to prevent it from happening again.
11 citations
,
October 2021 in “Orphanet journal of rare diseases” Patients with RASopathies are at risk for autoimmune disorders and should be routinely screened.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
December 2020 in “Ambiance in Life” Women with hair loss may have higher heart disease risk.
7 citations
,
February 2012 in “Journal of cutaneous pathology” The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
The document's conclusion cannot be provided because the document is not readable or understandable.
January 2023 in “World Journal of Clinical & Medical Images” Early diagnosis and prednisone treatment can improve outcomes in Cronkhite-Canada syndrome.
3 citations
,
January 2022 in “JAAD Case Reports” Alopecia areata and myasthenia gravis can occur as rare symptoms of breast cancer.
January 2025 in “Annals of Thoracic and Cardiovascular Surgery” Removing the thymoma improved the patient's alopecia areata, suggesting a possible link between the two.
11 citations
,
February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
October 2023 in “Indian dermatology online journal” The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
45 citations
,
January 2007 in “Journal of Clinical Oncology” Sorafenib may cause hand-foot and stump syndrome, requiring early detection and management.
September 2024 in “International Journal of Contemporary Pediatrics” A multidisciplinary approach is crucial for treating complex cases of Rapunzel syndrome in children.
11 citations
,
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.
2 citations
,
May 2006 in “Archives of Pathology & Laboratory Medicine” Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
10 citations
,
June 2007 in “Journal of Oral and Maxillofacial Surgery” A man's rare tumor caused unusual nerve-related symptoms that improved after surgery.
February 2025 in “Veterinary Clinical Pathology” The ferret had a malignant apocrine gland tumor and did not survive surgery.
April 2026 in “Clinical Case Reports” A strict gluten-free diet can improve liver issues in celiac disease.
9 citations
,
January 1975 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
June 2021 in “The Journal of Family Practice” A 69-year-old woman has a fast-growing hand lesion that didn't improve with salicylic acid.
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.
3 citations
,
January 2021 in “Veterinary dermatology” A litter of cats had a hair condition similar to a mouse mutation, leading to hair loss and abnormal hair and skin.
People with early-onset hair loss (AGA) have a higher risk of heart disease, metabolic syndrome, and prostate enlargement.
28 citations
,
June 1998 in “Clinical Genetics” Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
12 citations
,
May 2006 in “Journal of Neurology Neurosurgery & Psychiatry” Neuromyotonia and morphoea can occur together in the same body areas.
February 2023 in “Cosmoderma” An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
November 2022 in “American Journal of Clinical Pathology” TURP specimens should be checked for various tumors, not just common prostate issues.
May 2009 in “South African Family Practice” The author believes that giving medical conditions official names can sometimes overwhelm or scare patients.