16 citations
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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.
February 2013 in “Pediatrics in Review” The girl's symptoms suggest a complex condition that's hard to diagnose despite normal test results.
15 citations
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October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
8 citations
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August 2013 in “Pediatric Dermatology” Loose Anagen Hair Syndrome is found in black-haired Indian children and is often missed, especially in boys.
May 2015 in “Journal of The American Academy of Dermatology” A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.
2 citations
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July 2019 in “Indian dermatology online journal” A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.
February 2026 in “Endokrynologia Polska” Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
12 citations
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May 2006 in “Journal of Neurology Neurosurgery & Psychiatry” Neuromyotonia and morphoea can occur together in the same body areas.
8 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
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.
2 citations
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July 2016 in “Pharmacopsychiatry” A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.
Early detection and treatment of hair-thread tourniquet syndrome in young girls is important to prevent serious harm.
1 citations
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April 2016 in “Journal of The American Academy of Dermatology” The study concludes that Loose Anagen Hair Syndrome is a benign condition that usually improves with age but can be hard to diagnose and stressful for the family.
84 citations
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April 2002 in “Archives of Dermatology” Loose anagen hair syndrome may be caused by keratin gene mutations.
March 2016 in “Cairn.info” Unexplained infant crying might be due to hair tourniquet syndrome, which needs quick attention and checking for possible abuse.
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
5 citations
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October 2003 in “PubMed” Hormonal therapy is essential in late-diagnosed Kallmann's syndrome to prevent bone issues.
23 citations
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August 1983 in “PubMed” Clq deficiency is linked to systemic lupus erythematosus symptoms.
11 citations
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May 1998 in “Child's nervous system” A baby had a rare condition with abnormal blood vessels in the brain and unusual skin and hair growth, possibly a new syndrome.
5 citations
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February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
October 2024 in “Journal of the Endocrine Society” Type B Insulin Resistance Syndrome is rare, linked to lupus, and hard to treat due to severe insulin resistance.
9 citations
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August 2002 in “British journal of ophthalmology” The document reports a rare case of ECCL with a new association with optic disc colobomas.
34 citations
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September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
3 citations
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February 2002 in “The American journal of psychiatry” Stopping birth control pills may have triggered a manic episode in a woman with HAIR-AN syndrome.
September 2016 in “Journal of Dermatological Science” Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” The twins' condition is unique and doesn't match any known syndromes.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
January 2025 in “Clinical Case Reports” Timely and aggressive treatment is crucial for improving outcomes in severe complications of adult-onset Still's disease.
October 2025 in “Journal of the Endocrine Society” Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.
13 citations
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September 1989 in “International Journal of Dermatology” Carbamazepine may cause reversible nail detachment.