June 2018 in “Surgical Case Reports” S-1 treatment led to a complete response in pancreatic cancer with manageable side effects.
People with Down syndrome have a higher risk of skin disorders and need better screening and treatment.
21 citations
,
September 2016 in “Journal of Dermatological Treatment” The new classification system for skin disorders emphasizes the importance of understanding a patient's awareness of their condition for better treatment.
140 citations
,
April 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzyme 25 Hydroxyvitamin D 1 α-Hydroxylase is essential for healthy skin and recovery after skin damage.
56 citations
,
April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
36 citations
,
August 2011 in “Experimental Dermatology” Eccrine sweat gland's clear cells likely cause excessive sweating in hyperhidrosis.
29 citations
,
April 1995 in “Endocrinology” Finasteride doesn't affect bone density in male rats.
7 citations
,
April 1995 in “Endocrinology” Finasteride doesn't affect bone density in male rats.
January 2023 in “Open veterinary journal” Cow blood vessel cell secretions helped heal rat burn wounds and may treat burns and hair loss.
February 2026 in “Endokrynologia Polska” Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
23 citations
,
October 2021 in “AAPS PharmSciTech”
32 citations
,
February 2008 in “Journal of the American Academy of Dermatology” KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
3 citations
,
January 2011 in “Intestinal Research” Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
January 2024 in “Wiadomości Lekarskie” DEC cells show promise as a safe and effective treatment for Duchenne muscular dystrophy.
26 citations
,
August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
January 2011 in “Junshi yixue” A mouse model for studying scleroderma in chronic graft-versus-host disease was successfully created.
April 2025 in “Dermatology Practical & Conceptual” Biopsy is crucial to accurately distinguish Erosive Pustular Dermatosis of the Scalp from Squamous Cell Carcinoma.
15 citations
,
November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
A person with a new mutation in the SCN1A gene developed brain inflammation after COVID-19.
April 2024 in “BMB Reports” Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
54 citations
,
June 2018 in “Nutrients” Early diagnosis and a strict gluten-free diet are crucial for children with celiac disease to improve symptoms.
1 citations
,
June 2015 in “Australasian Journal of Dermatology” A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.
July 2025 in “Journal of Cutaneous Pathology” Early skin biopsy is crucial for diagnosing Conradi-Hünermann-Happle syndrome.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
5 citations
,
March 2013 in “International journal of surgical pathology” Cronkhite-Canada syndrome can be diagnosed without gastrointestinal polyps if there is severe mucosal atrophy and edema.
April 2020 in “Journal of the Endocrine Society” Hair cortisol measurement can help diagnose and monitor Cushing’s disease.
15 citations
,
June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
3 citations
,
July 2020 in “International Journal of Molecular Sciences” SCDSFs from zebrafish embryos are beneficial for treating cancer, regenerating tissues, and improving conditions like psoriasis and alopecia.