3 citations,
August 2017 in “Springer eBooks” The document explains breast development, common breast conditions, and their treatments.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
January 2015 in “Springer eBooks” Ichthyoses are skin disorders causing scales, with treatment depending on type and severity.
119 citations,
November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
115 citations,
October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
110 citations,
January 1984 in “Progress in brain research” Gonadal hormones may influence sex differences in play fighting in animals, but their effect on human spatial behavior is unclear and needs more research.
71 citations,
January 2015 in “The Scientific World Journal” Insulin resistance may contribute to various skin diseases and treating it could improve skin health and prevent more serious conditions.
53 citations,
September 1999 in “The journal of cell biology/The Journal of cell biology” K16 can partially replace K14 but causes hair loss and skin issues.
19 citations,
December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
14 citations,
December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
11 citations,
December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
5 citations,
January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
5 citations,
January 2012 in “International journal of trichology” A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
3 citations,
May 2013 in “Pediatric Dermatology” A newborn girl had a rare case of salivary gland tissue on her chest, which was safely removed.
2 citations,
January 2023 in “Journal of Clinical Medicine” People with hair loss conditions may also have thyroid disorders, but more research is needed to understand the connection.
2 citations,
February 2016 in “African Journal of Traditional Complementary and Alternative Medicines” Prolonged linseed ingestion is safe for rabbits.
2 citations,
February 2007 in “Plastic and Reconstructive Surgery” The book "Plastic Surgery, 2nd Edition" is a valuable, comprehensive resource for plastic surgeons.
1 citations,
June 2021 in “Computer methods and programs in biomedicine” Children with cancer had slightly more unusual facial shapes than healthy kids, but not enough to easily tell them apart.
1 citations,
January 2013 in “Indian journal of dermatology, venereology, and leprology” A girl inherited excessive body hair from her mother and grandmother.
October 2024 in “Andrology” Paternal drug exposure can harm fertility, pregnancy outcomes, and offspring health, with specific drugs linked to various reproductive issues.
A 12-year-old girl in Saudi Arabia with Focal dermal hypoplasia showed skin and dental symptoms, highlighting the condition's variability and the need for personalized treatment.
August 2022 in “Case reports in medicine” Long eyelashes in a patient were an unusual sign of systemic lupus erythematosus.
August 2016 in “Journal of the American Academy of Dermatology” The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
February 2013 in “Journal of The American Academy of Dermatology” Oral propranolol successfully treated a baby's skin growth and ulceration linked to PELVIS syndrome.
April 2005 in “Clinics in Plastic Surgery” Various surgical techniques effectively treat skin diseases and cosmetic issues.
December 1987 in “Pediatric Dermatology” Hair bands are a new symptom of facio-genito-popliteal syndrome.
December 2006 in “8th European Congress of Endocrinology incorporating the British Endocrine Societies” Men with early hair loss and hormonal changes like PCOS could be the male equivalent of PCOS, not linked to metabolic syndrome.
56 citations,
October 2010 in “Pediatric Clinics of North America” Epidermal nevi are skin cell clusters linked to various syndromes.