December 2024 in “Livers” Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
24 citations,
July 2014 in “Journal of Investigative Dermatology” Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
[object Object] 21 citations,
June 2010 in “Anais Brasileiros De Dermatologia” The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.
151 citations,
December 2004 in “Annals of the New York Academy of Sciences” Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
14 citations,
January 2013 in “Hormone and Metabolic Research” The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
17 citations,
November 2009 in “Dermato-endocrinology” Medium-dose prednisolone pulse therapy is effective and safe for multifocal alopecia areata but not for more severe forms.
[object Object] 56 citations,
March 2010 in “Journal of Dermatology” Most cases of Temporal Triangular Alopecia are found in early childhood and may be related to genetic conditions.
6 citations,
August 2006 in “Journal of Cutaneous Pathology” Two teenage brothers had a rare, treatment-resistant form of female-pattern hair loss with unusual scalp changes.
16 citations,
September 2018 in “Clinical Biochemistry” The document concludes that more research is needed to fully understand the causes of PCOS.
12 citations,
June 2012 in “Revista da Sociedade Brasileira de Medicina Tropical” A family had a rare fungal infection called white piedra, identified as Trichosporon inkin.
3 citations,
August 2022 in “Curēus” The SARS-CoV-2 vaccine may be linked to triggering autoimmune conditions like Alopecia Areata.
5 citations,
March 2015 in “Women's Health” The document concludes that diagnosing PCOS requires a thorough approach, considering various symptoms and risks, and calls for improved methods to identify PCOS types and prevent diabetes.
35 citations,
April 2014 in “American Journal of Medical Genetics” Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
88 citations,
January 2013 in “Indian Journal of Dermatology, Venereology and Leprology” Minoxidil and finasteride effectively treat hair loss.
91 citations,
August 2015 in “Anais Brasileiros De Dermatologia” Female Pattern Hair Loss affects women's self-esteem and needs more research for better treatment.
15 citations,
January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
1 citations,
July 2016 in “Elsevier eBooks” Understanding skin structure and development helps diagnose and treat skin disorders.
199 citations,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
111 citations,
January 2007 in “Seminars in cell & developmental biology” Hair, teeth, and mammary glands develop similarly at first but use different genes later.
1 citations,
May 1965 in “Medical Clinics of North America” Hair growth dysfunction involves various conditions with limited treatment options.
3 citations,
November 2022 in “The Egyptian Rheumatologist” Macrophage activation syndrome can be a deadly first sign of systemic lupus erythematosus.
181 citations,
January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
July 2003 in “British Journal of Dermatology” Some skin conditions are associated with other serious diseases, and office microscopy may miss many fungal infections.
2 citations,
October 2022 in “Frontiers in genetics” Late diagnosis of congenital adrenal hyperplasia can greatly affect physical development, gender identity, and sexual health.
9 citations,
December 2013 in “International journal of gynaecology and obstetrics” Polycystic ovary syndrome (PCOS) is a major health issue for women in Egypt, affecting 14% of fertile women and 37.5% of infertile women.
55 citations,
November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
46 citations,
September 2011 in “Movement Disorders” Finasteride reduces Tourette syndrome symptoms, but results may be limited due to potential biases.
40 citations,
June 2021 in “Clinical, cosmetic and investigational dermatology” JAK inhibitors show promise in effectively treating hair loss from alopecia areata.
47 citations,
June 2011 in “Movement Disorders” The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
10 citations,
June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.