July 2017 in “ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS” Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
3 citations
,
May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
October 2023 in “Indian Journal of Ophthalmology - Case Reports” Kallmann syndrome can cause eye issues and other health problems, requiring various treatments.
44 citations
,
July 2013 in “Journal of the American Academy of Dermatology” Poliosis circumscripta is a patch of white hair caused by lack of melanin, linked to genetic and acquired conditions.
20 citations
,
March 2015 in “Archives of Plastic Surgery” Facelifts for Asians are challenging due to thicker, heavier skin.
April 2007 in “CRC Press eBooks” Certain vitamins in wrong amounts, alcohol abuse, metals, and other toxins can cause serious brain and nerve damage.
23 citations
,
September 2021 in “Clinical Cosmetic and Investigational Dermatology” Botulinum toxin is used in skin care for cosmetic and medical purposes.
2 citations
,
December 2024 in “Children” Thyroid disorders can cause skin issues in children, so early detection and screening are important.
April 2024 in “Surgical Techniques Development” The 11th AICPE Congress in Rimini was a major event in European aesthetic plastic surgery.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
2 citations
,
February 2024 in “Pharmaceutics” Chitosan scaffolds with silver nanoparticles effectively treat infected wounds and promote faster healing.
May 2020 in “Plastic and Aesthetic Research” Endoscopic facial rejuvenation is key for natural, long-lasting results with less scarring and quick recovery.
260 citations
,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
188 citations
,
January 2022 in “PubMed” Advancements in understanding, diagnosing, and managing congenital adrenal hyperplasia have improved treatment and long-term outcomes.
178 citations
,
October 2001 in “Genes & Development” The mutated hairless gene causes hair loss by acting as a new type of corepressor affecting thyroid hormone receptors.
157 citations
,
May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
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.
132 citations
,
January 1987 in “Annals of Internal Medicine” Methimazole may cause skin defects in babies if taken during pregnancy.
100 citations
,
May 2011 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
88 citations
,
April 2017 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
81 citations
,
March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
74 citations
,
January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
69 citations
,
May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
66 citations
,
June 2018 in “British Journal of Dermatology” European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
53 citations
,
August 2015 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Excessive body hair can signal complex health issues.
47 citations
,
April 2000 in “Experimental Dermatology” A new gene mutation causes a rare type of hair loss.
42 citations
,
September 2000 in “British Journal of Dermatology” Some children are born with unusually short, fine hair because their hair growth phase is short, but this often gets better by itself during puberty.
41 citations
,
November 2011 in “The Journal of Dermatology” Some hair loss disorders are caused by genetic mutations affecting hair growth.
37 citations
,
August 1999 in “Journal of Investigative Dermatology” A specific gene mutation causes complete hair loss without other health issues.
36 citations
,
March 1987 in “Pediatrics” Minoxidil use during pregnancy can cause excessive hair growth and multiple birth defects in the baby.