6 citations
,
January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
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.
September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
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.
1 citations
,
June 2022 in “Tidsskrift for Den norske legeforening” A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
9 citations
,
April 1985 in “Archives of Dermatology” Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.
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.
January 2026 in “Clinical Case Reports” A 6-year-old girl had both monilethrix and trichorrhexis nodosa, causing brittle hair, with minimal improvement from treatment.
80 citations
,
June 1997 in “The American Journal of Human Genetics” 23 citations
,
December 2008 in “Pediatric neurology” The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
28 citations
,
January 2012 in “Case Reports in Medicine” Hair-thread Tourniquet Syndrome, where hair or thread tightly wraps around a body part, is not rare and requires early detection to prevent serious damage.
The study concludes that Twenty-nail dystrophy is more common in boys among children and in women among adults, with varying response to treatment.
10 citations
,
January 1995 in “Dermatology” Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
5 citations
,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
44 citations
,
August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
12 citations
,
July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
3 citations
,
January 2011 in “Intestinal Research” Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
December 2025 in “Clinical Case Reports” Netherton syndrome causes skin and hair issues, confirmed by "bamboo hair" under dermoscopy, with no cure but managed with topical treatments.
60 citations
,
March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
15 citations
,
June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
32 citations
,
May 1986 in “Archives of Dermatology” The condition is likely inherited in an autosomal-dominant pattern.
2 citations
,
April 1970 in “Archives of Dermatology” Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.
3 citations
,
June 2004 in “Työväentutkimus Vuosikirja” Ectodermal dysplasia syndromes are caused by disruptions in key signaling pathways affecting tooth and hair development.
January 2017 in “IMC Journal of Medical Science” A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
December 2016 in “John Wiley & Sons, Ltd eBooks” The document concludes that proper recognition and treatment of skin appendage disorders are important for management.
September 2023 in “Ukraïnsʹkij žurnal Perinatologìâ ì pedìatrìâ” Quick action and prevention are crucial to avoid severe complications from tourniquet syndrome in children.
21 citations
,
September 1997 in “British Journal of Dermatology” Monilethrix is linked to the type II keratin gene on chromosome 12q13.
26 citations
,
January 1993 in “Dermatology” A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
264 citations
,
October 1958 in “Archives of Dermatology” A 4-year-old girl has a rare hair condition causing fragile, short hair.