June 2019 in “Pediatric Dermatology” Alopecia in patients with epidermolysis bullosa varies in severity and is often caused by skin blistering or trauma.
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
38 citations
,
August 2005 in “Veterinary dermatology” A disease causing skin issues in young adult German short-haired pointers is hereditary, with most affected dogs not responding to treatment.
17 citations
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May 2007 in “British Journal of Dermatology” Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
The document concludes that the girl's hairlessness is likely inherited from her parents.
33 citations
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December 1982 in “Developmental Medicine & Child Neurology” Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
13 citations
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February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
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.
April 2014 in “Jurnal Biomedik : JBM” An 8-year-old girl had nail and hair issues that improved without specific treatment, but fungal nail infection was hard to cure.
23 citations
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February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
December 1987 in “Pediatric Dermatology” Hair bands are a new symptom of facio-genito-popliteal syndrome.
Early diagnosis and lifelong zinc supplementation are crucial for treating acrodermatitis enteropathica effectively.
September 2014 in “Emergency Medicine News” The man's skin condition improved with sun protection and topical steroids, but UV exposure still caused flare-ups.
6 citations
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January 2013 in “Case reports in endocrinology” The document concludes that AFA should be considered in patients with acromegaly-like features but normal hormone levels, and more cases need to be identified to understand the condition fully.
November 2025 in “Journal of Skin and Sexually Transmitted Diseases” Trichofolliculoma was found in a person with amniotic band syndrome for the first time.
3 citations
,
May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
10 citations
,
July 2014 in “Annals of Saudi Medicine” A 30-year-old man with rare skin conditions improved with antibiotics and surgery, hinting at a link to rosacea.
40 citations
,
November 2021 in “International Journal of Molecular Sciences” Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
14 citations
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February 2007 in “The Journal of Bone and Joint Surgery” A baby's toe was saved from serious damage by quickly removing a hair wrapped tightly around it.
1 citations
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January 2023 in “Journal of Drugs in Dermatology” Early detection of Graham-Little-Piccardi-Lasseur syndrome is key for better management.
11 citations
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March 2004 in “Journal of Comparative Pathology” Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.
January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
3 citations
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June 2020 in “Open access rheumatology” A patient with Rhupus was diagnosed with Rowell syndrome and treated with various medications.
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.
5 citations
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February 2019 in “PloS one” Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
July 2024 in “Journal of Investigative Dermatology” Pediatric patients with dystrophic epidermolysis bullosa face more hospital admissions, procedures, and complications than others.
1 citations
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January 2013 in “Indian journal of dermatology, venereology, and leprology” A girl inherited excessive body hair from her mother and grandmother.
1 citations
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April 2011 in “Clinical Kidney Journal” A benign skin tumor grew quickly in a dialysis patient and was surgically removed.
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
January 2007 in “Linchuang pifuke zazhi” A 15-year-old boy had a rare skin growth on his buttock.