July 2016 in “American Journal of Dermatopathology” The meeting showcased rare skin disease cases, highlighting the need for accurate diagnosis and treatment.
8 citations
,
September 2016 in “Pediatric dermatology” People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
3 citations
,
November 2016 in “Clinical Pediatrics” A girl with Crohn's disease developed hair loss from her medication, which improved with treatment but later returned.
64 citations
,
August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
3 citations
,
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
December 2025 in “JGH Open” Early diagnosis and treatment with corticosteroids can improve outcomes in Cronkhite–Canada syndrome.
1 citations
,
October 2022 in “Dermatology practical & conceptual” Isolated patchy heterochromia with pili annulati can occur without other health issues.
19 citations
,
September 2010 in “The American journal of pathology” High glucocorticoids cause pancreatic malfunction and malabsorption, reversible with enzyme supplements.
3 citations
,
November 2023 in “Вопросы современной педиатрии” Ustekinumab effectively treated psoriasis and ulcerative colitis in a teen after infliximab caused complications.
July 2023 in “International Journal of Rheumatic Diseases” Ulcerative sarcoidosis in body folds is rare and improved with prednisone and hydroxychloroquine.
February 2023 in “Journal of dermatology” The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
23 citations
,
March 2017 in “JAAD case reports” The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
23 citations
,
December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
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.
October 2015 in “The American Journal of Gastroenterology” Allopurinol may cause rare granulomatous microscopic colitis.
3 citations
,
February 2019 in “Journal of endourology case reports” Polypoid cystitis can mimic bladder cancer but can be effectively treated with surgery, stents, and medication.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
7 citations
,
March 2011 in “Hormone and Metabolic Research” Certain gene variations might help protect against insulin resistance and glucose intolerance in people with Polycystic Ovary Syndrome.
14 citations
,
September 1998 in “Journal of Pediatric Gastroenterology and Nutrition” Pulmonary symptoms in Crohn's disease can occur and should be diagnosed with bronchoscopy for effective treatment.
6 citations
,
February 2020 in “Journal of Cutaneous Pathology” Nevus psiloliparus lacks mature hair follicles but keeps other skin structures intact.
September 2019 in “Rheumatology advances in practice” Diagnosing and treating rapidly worsening lung disease is difficult and requires better guidelines and understanding.
June 2024 in “British Journal of Dermatology” A rare case of a transplant patient developing a skin condition linked to HPV-49.
2 citations
,
January 2021 in “Case reports in endocrinology” The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
July 2025 in “Case Reports in Dermatology” Early detection and treatment are crucial to prevent irreversible hair loss in Lichen Planopilaris.
6 citations
,
March 2024 in “Journal of Clinical Laboratory Analysis” Certain genetic variations in IGF2BP2 and IGFBP3 are linked to a higher risk of PCOS.
175 citations
,
September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
232 citations
,
July 1995 in “Nature Genetics”
5 citations
,
September 1986 in “Pediatric Dermatology” A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
August 2022 in “Brain and Development” A nine-year-old girl with muscle weakness and total hair loss improved with specific treatments.
286 citations
,
January 2009 in “Human Reproduction Update” Women with the NIH type of PCOS have more obesity and higher risk of diabetes and heart disease than those with other types of PCOS.