16 citations
,
May 2013 in “Australasian Journal of Dermatology” Hair loss in Cronkhite-Canada syndrome is reversible by treating the gut issues and doesn't need steroid treatment for the hair itself.
7 citations
,
September 2013 in “Familial cancer” Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
7 citations
,
July 1975 in “Acta dermato-venereologica” A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
19 citations
,
April 1995 in “Clinical Genetics” Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.
9 citations
,
May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
October 2025 in “Journal of the Endocrine Society” Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.
4 citations
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December 2001 in “Endoscopy” Prednisolone and Bactrim improved symptoms in a woman with Cronkhite-Canada syndrome.
14 citations
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January 2018 in “Endocrine” Cantú syndrome may be linked to pituitary adenomas.
3 citations
,
January 2020 in “JAAD Case Reports” A girl had two rare hair conditions that helped understand their overlap.
2 citations
,
August 2014 in “Archivos argentinos de pediatría” A 6-year-old girl with Turner syndrome also had psoriasis, alopecia areata, and trachyonychia.
5 citations
,
May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
26 citations
,
September 1990 in “Ophthalmology” The study found no common cause for a girl's crystalline cataract and uncombable hair, suggesting their co-occurrence might be coincidental.
4 citations
,
January 1970 in “Journal of Bangladesh College of Physicians and Surgeons” Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
8 citations
,
July 2015 in “Molecular cytogenetics” A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
175 citations
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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.
1 citations
,
December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
33 citations
,
January 2007 in “Pediatric dermatology” Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
10 citations
,
May 1974 in “American journal of diseases of children” The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
5 citations
,
August 2014 in “Archivos Argentinos de Pediatria” A girl with Turner syndrome had psoriasis, alopecia areata, and trachyonychia.
10 citations
,
March 1997 in “Pediatric Dermatology” A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
4 citations
,
October 2023 in “Children” Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
16 citations
,
July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
28 citations
,
July 1980 in “British Journal of Dermatology” The hair disorder was caused by abnormal protein formation, making hair easily damaged.
May 2015 in “European Journal of Paediatric Neurology” ECCL should be considered in patients with specific skin and eye lesions.
3 citations
,
December 1991 in “PubMed” The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
26 citations
,
January 1993 in “Dermatology” A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
January 2013 in “Kidney international” A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
15 citations
,
April 2007 in “Journal of child neurology” An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.