December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” 21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
January 2023 in “International Journal of Contemporary Pediatrics” A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.
January 2013 in “International Journal of Trichology” Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
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.
38 citations
,
September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
31 citations
,
September 2003 in “International Journal of Dermatology” Vitamin D-dependent rickets Type II causes bone problems and hair loss, and doesn't improve with Vitamin D treatment.
30 citations
,
June 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
28 citations
,
June 1995 in “The Journal of Dermatology” The flaky skin mouse mutation is a natural model for studying human psoriasis.
26 citations
,
December 2003 in “Experimental Dermatology” Specific keratin gene mutations can cause monilethrix.
15 citations
,
November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
9 citations
,
April 2020 in “Journal of dermatology” A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
6 citations
,
January 2000 in “The Journal of Trace Elements in Experimental Medicine” Zinc supplements effectively treat acrodermatitis enteropathica.
5 citations
,
September 2015 in “Nepalese journal of ophthalmology” An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
5 citations
,
January 1970 in “Journal of Nepal Paediatric Society” Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.
4 citations
,
January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
1 citations
,
September 2018 in “Australasian Journal of Dermatology” A boy with GAPO syndrome had hair loss similar to male pattern baldness without hormone issues, possibly due to skin or blood vessel problems.
April 2025 in “Indian Journal of Paediatric Dermatology” Zinc supplements improved the girl's skin and hair condition.
December 2024 in “Turkish Journal of Forensic Medicine” Next-Generation Sequencing improves forensic analysis by providing detailed genetic information quickly.
December 2024 in “Indian Journal of Dermatology” Dermoscopy is useful for diagnosing Atrichia with Papular Lesions in children without needing a biopsy.
January 2024 in “JCEM case reports” This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
April 2012 in “Neuropediatrics” Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
January 2000 in “The Journal of Trace Elements in Experimental Medicine” Zinc supplementation effectively treats acrodermatitis enteropathica symptoms.
383 citations
,
February 2011 in “Nature Reviews Genetics” DNA profiling in forensics has improved, but predicting physical traits and ancestry from DNA has limitations and requires ethical consideration.
79 citations
,
March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
49 citations
,
April 2007 in “Pediatric Dermatology” Biotin improved hair appearance in uncombable hair syndrome but didn't change hair structure.
43 citations
,
April 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
31 citations
,
January 2010 in “GenomeBiology.com (London. Print)” The research concluded that selection significantly shaped the genetic variation of the X chromosome, with certain regions affected by past selective events.