Additional surgeries are often needed to fix facial issues in patients with orofacial clefts.
11 citations
,
November 2005 in “The Journal of Dermatology” A man's crushed thumb caused unusual horizontal nail ridges on all fingers of one hand.
33 citations
,
October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
1 citations
,
August 2024 in “Pediatric Dermatology” A rare, harmless hair condition was found in an infant's eyebrow, needing no treatment.
3 citations
,
August 2024 in “Dermatology and Therapy” Gene and cell therapies are being developed to treat rare skin conditions like epidermolysis bullosa and ichthyosis.
6 citations
,
October 2022 in “Frontiers in Physiology” Calcium channels are vital for normal skin function and their dysfunction can lead to skin issues.
28 citations
,
October 2004 in “Differentiation” A gene deletion causes the "hairless" trait in Iffa Credo rats.
75 citations
,
September 1985 in “Archives of dermatology” Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
15 citations
,
August 2008 in “Plastic & Reconstructive Surgery” New cell sources for bone tissue engineering are promising due to easier harvesting and availability.
130 citations
,
January 2000 in “Nature biotechnology” 10 citations
,
May 2017 in “Wound Repair and Regeneration” Overexpression of ALK2 in hair follicles disrupts skin development and slows wound healing.
22 citations
,
February 2004 in “Journal of pediatric gastroenterology and nutrition” Children with severe ichthyosis and growth failure rarely have nutritional deficiencies or gastrointestinal issues, but may experience chronic dehydration.
13 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
June 2025 in “British Journal of Dermatology” Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.
January 2021 in “TURKISH JOURNAL OF VETERINARY AND ANIMAL SCIENCES” Platelet-rich plasma speeds up bone healing and reduces complications.
118 citations
,
August 2010 in “Developmental Cell” MIM is crucial for hair follicle formation and regeneration by controlling cilia formation and hedgehog signaling through its interaction with Cortactin and Src.
33 citations
,
May 2015 in “JAMA Dermatology” Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
August 2007 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Overexpression of a specific receptor in mice skin causes skin thinning, early skin barrier formation, eye issues, and hair loss.
15 citations
,
November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
2 citations
,
June 2003 in “American Journal of Dermatopathology” A unique case of skin cancer showed unusual calcification, possibly linked to calcium-binding proteins.
January 2009 in “Bradford Scholars (University of Bradford)” BMP signaling helps prevent skin tumors by blocking cancer-promoting pathways.
21 citations
,
September 1997 in “British Journal of Dermatology” Monilethrix is linked to the type II keratin gene on chromosome 12q13.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
32 citations
,
August 2016 in “Science Signaling” Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
September 2019 in “Journal of Investigative Dermatology” BMPs are important for hair growth and can counteract the negative effects of androgens on hair follicle stem cells.
22 citations
,
March 2019 in “The Journal of Cell Biology” The Wave complex controls skin growth by suppressing certain signals.
2 citations
,
August 2004 in “Veterinary Dermatology” A dog with a hereditary skin condition causing blisters and hair loss survived for a year.
18 citations
,
June 2016 in “Clinical and Experimental Dermatology” Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
55 citations
,
April 2008 in “Clinical Genetics” A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.