October 2019 in “Research Square (Research Square)” The junction of the inner and outer prepuce with good blood flow is best for vascular pedicle flaps.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
7 citations
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September 2011 in “International Journal of Dermatology” The Korean study found that twenty-nail dystrophy mainly affects adults, more often women, and has five distinct types with different clinical progressions.
53 citations
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August 2015 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Excessive body hair can signal complex health issues.
4 citations
,
January 2025 in “Clinical Cosmetic and Investigational Dermatology” Papular acantholytic dyskeratosis of the vulva is a rare, benign skin condition that can be managed conservatively.
16 citations
,
January 2010 in “American Journal of Neuroradiology” Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
March 2018 in “The journal of applied laboratory medicine” The rash on the infant indicated a serious underlying condition.
14 citations
,
June 1989 in “Journal of dermatology” Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
16 citations
,
January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science” A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
9 citations
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April 1985 in “Archives of Dermatology” Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.
199 citations
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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.
July 2020 in “Endocrine practice” A 13-year-old boy with Cushing syndrome has high cortisol levels from a pituitary gland issue and underdeveloped sexual characteristics.
January 2013 in “Reproductive Biology”
22 citations
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March 2021 in “European journal of endocrinology” Primary amenorrhea and delayed puberty in females can be diagnosed and managed effectively.
203 citations
,
December 1947 in “Annals of Internal Medicine”
1 citations
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February 2013 in “Clinical pediatrics” The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
1 citations
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April 2016 in “Journal of Investigative Dermatology” Patients with Focal Dermal Hypoplasia often experience skin, nail, hair, and bone issues, and may benefit from calcium and vitamin D supplements.
January 2014 in “The Journal of Dermatology” Korean adolescents with androgenetic alopecia often have a family history, milder symptoms than adults, and normal hormone levels.
1 citations
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December 2019 in “Medical Journal of Dr D Y Patil Vidyapeeth” A rare adrenal gland tumor can cause unusual symptoms due to hormone changes.
October 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica effectively.
February 2010 in “Journal of the American Academy of Dermatology” Umbilical cord blood transplantation improved the boy's symptoms despite complications.
4 citations
,
December 2014 in “Indian Journal of Dermatology” A rare skin condition with cysts was found on a 5-year-old boy's scalp.
7 citations
,
January 2013 in “Hormone Research in Paediatrics” Ectopic adrenal rests can cause androgen excess after adrenalectomy and may need targeted surgery.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
1 citations
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November 2021 in “Revista Científica Hospital Santa Izabel” Adhesion molecules are crucial for fetal hair growth.
11 citations
,
September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
14 citations
,
January 2018 in “Endocrine” Cantú syndrome may be linked to pituitary adenomas.
1 citations
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October 2018 in “Bioscience reports” Annexin A2 isoform 2 helps dermal papillae cells grow, affecting hair growth.
April 2020 in “Journal of the Endocrine Society” Non-classic congenital adrenal hyperplasia (NCCAH) can mimic PCOS and requires genetic testing for proper diagnosis and treatment.
18 citations
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November 2016 in “Neuromuscular Disorders” Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.