31 citations
,
June 2011 in “Movement Disorders” The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
September 2025 in “Indian Journal of Child Health” Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
1 citations
,
November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
1 citations
,
January 2008 in “SKINmed Dermatology for the Clinician” Treatment with prednisolone and dapsone stopped new blisters and partially healed previous ones.
407 citations
,
January 2008 in “Cochrane Database of Systematic Reviews” Glucocorticoid corticosteroids improve muscle strength in Duchenne muscular dystrophy but can cause side effects.
20 citations
,
October 2003 in “The Journal of Dermatology” DCP therapy causes side effects like weakness, flushing, headaches, and taste changes, but less frequently causes hypertension and diabetes.
12 citations
,
January 2013 in “Indian dermatology online journal” The document reports a unique case of woolly hair with a combination of conditions not previously seen together.
Improved nutrition quickly healed the patient's skin lesions.
12 citations
,
July 1979 in “International Journal of Dermatology” A patient with zinc depletion improved after zinc supplementation during parenteral nutrition.
63 citations
,
February 2013 in “Human cell” PEGL-DOX causes Hand-Foot Syndrome due to skin reactions from prolonged circulation and ROS generation.
2 citations
,
August 2016 in “Journal of Investigative Dermatology”
April 2023 in “Journal of Investigative Dermatology” Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.
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.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.
December 2022 in “Gastroenterology” A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.
February 2025 in “Iraqi Journal of Science” PCOS patients have higher LDH and lower cortisol, dopamine, zinc, and vitamin D3, which may contribute to their symptoms and obesity.
7 citations
,
August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
23 citations
,
February 1979 in “Veterinary Clinics of North America: Small Animal Practice” Treatment can improve survival and symptoms in dogs with Cushing's disease, but outcomes are unpredictable.
30 citations
,
January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
January 2018 in “Indian Dermatology Online Journal” A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
August 2023 in “Indian journal of pediatrics/Indian Journal of Pediatrics” Topical treatments helped a child with Down syndrome and severe hair loss regrow most of his hair.
14 citations
,
June 1989 in “Journal of dermatology” Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
8 citations
,
October 2014 in “The Journal of Dermatology” Patients with alopecia areata should be checked for muscle spasms, diarrhea, and ANA to avoid missing Satoyoshi syndrome.
7 citations
,
September 2013 in “Familial cancer” Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
34 citations
,
September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
January 2021 in “American journal of dermatological research and reviews” The muscle damage was caused by T-cell large granular lymphocytic leukemia, not dermatomyositis.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Most patients experienced mild to moderate skin problems during a trial for a desmoid tumor treatment.
5 citations
,
August 2014 in “Archivos Argentinos de Pediatria” A girl with Turner syndrome had psoriasis, alopecia areata, and trachyonychia.
April 2016 in “Journal of The American Academy of Dermatology” A woman's skin symptoms led to a diagnosis of systemic AL amyloidosis, but she died from sepsis shortly after.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” MPZL3 is crucial for seborrheic dermatitis development.