2 citations
,
March 2016 in “Serbian Journal of Dermatology and Venerology” A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
1 citations
,
August 2024 in “Pediatric Dermatology” A rare, harmless hair condition was found in an infant's eyebrow, needing no treatment.
4 citations
,
February 2014 in “Journal of the European Academy of Dermatology and Venereology” Early diagnosis of hair tourniquet syndrome saved a baby's toe from being lost.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
7 citations
,
May 2019 in “Acta Orthopaedica et Traumatologica Turcica” Hair tourniquet syndrome in infants can be treated successfully with immediate hair removal.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
5 citations
,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
372 citations
,
December 2004 in “Nature Genetics” 26 citations
,
April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
5 citations
,
January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
17 citations
,
August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
46 citations
,
September 2007 in “Journal of Investigative Dermatology” 39 citations
,
July 1997 in “American Journal of Medical Genetics” The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
September 2013 in “Helda (University of Helsinki)” Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
October 2025 in “Indian Journal of Paediatric Dermatology” Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
5 citations
,
June 2014 in “Gastroenterology report” Cronkhite-Canada syndrome can sometimes show unusual colonic adenomatous polyps.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
8 citations
,
April 2017 in “American Journal of Dermatopathology” Inflammation may cause nail issues in Cronkhite–Canada Syndrome.
20 citations
,
July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
The study concludes that Twenty-nail dystrophy is more common in boys among children and in women among adults, with varying response to treatment.
8 citations
,
July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
6 citations
,
January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
February 2026 in “Journal of Clinical Research in Pediatric Endocrinology” Children with Turner Syndrome often have skin, hair, and nail issues linked to hormonal problems, so regular skin checks are recommended.
July 2011 in “Journal of Pediatric and Adolescent Gynecology” A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.
28 citations
,
February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
April 2017 in “IOSR journal of dental and medical sciences” Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
32 citations
,
May 1986 in “Archives of Dermatology” The condition is likely inherited in an autosomal-dominant pattern.
15 citations
,
April 1970 in “PubMed” Netherton's syndrome may have a familial link and doesn't always include atopy.
175 citations
,
December 1980 in “Archives of Dermatology” Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
60 citations
,
March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.