30 citations
,
October 1994 in “Journal of Cutaneous Pathology” Multiple perifollicular fibromas may actually be unrecognized cases of Birt-Hogg-Dubé syndrome.
4 citations
,
January 2017 in “Annals of Dermatology” Frequent hairdryer use may worsen hair fragility in people with Pili Annulati.
5 citations
,
February 2019 in “PloS one” Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
3 citations
,
January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
January 2007 in “Linchuang pifuke zazhi” A 15-year-old boy had a rare skin growth on his buttock.
28 citations
,
October 2004 in “Differentiation” A gene deletion causes the "hairless" trait in Iffa Credo rats.
April 2017 in “Turkish Journal of Pediatric Disease” Careful diagnosis is crucial in premature pubarche cases, as 20% have other conditions.
January 2024 in “Frontiers research topics” Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.
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.
10 citations
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November 2008 in “Veterinary Dermatology” The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
87 citations
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August 1974 in “Journal of Investigative Dermatology” 148 citations
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May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
3 citations
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June 2016 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A patient with hair loss condition grew excessive hair in areas covered by a cast.
4 citations
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January 2025 in “Clinical Cosmetic and Investigational Dermatology” Papular acantholytic dyskeratosis of the vulva is a rare, benign skin condition that can be managed conservatively.
1 citations
,
January 2018 in “International Journal of Trichology” Circle hairs are harmless, spiral-shaped body hairs that don't need medical treatment.
6 citations
,
January 2014 in “Clinical hemorheology and microcirculation” Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
32 citations
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September 2003 in “European journal of oral sciences” People with ectodermal dysplasias often have reduced saliva production and should get saliva tests.
January 2013 in “The Pan African medical journal” Monilethrix causes short, fragile hair with no specific treatment available.
24 citations
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July 2014 in “Journal of Investigative Dermatology” Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
18 citations
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March 2004 in “The Journal of Urology” Hypospadiac rats showed abnormal genital development, useful for studying human hypospadias.
2 citations
,
December 2019 in “Archives of Craniofacial Surgery” Using a method of stretching skin multiple times can help cover large bald spots on the scalp, but it takes a long time and isn't good for kids.
Nicolaides-Baraitser syndrome may cause eczema and hair loss, needing early skin care and treatment.
11 citations
,
June 2012 in “Acta histochemica” Mice with a Gsdma3 gene mutation have thicker skin and longer hair follicle openings due to increased β-catenin levels.
109 citations
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September 2011 in “Human molecular genetics online/Human molecular genetics” New treatments targeting specific genes show promise for treating keratin disorders.
August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
17 citations
,
June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” The G60S Connexin43 mutation causes hair growth issues and poor hair quality in mice, similar to human ODDD patients.
November 2021 in “Zenodo (CERN European Organization for Nuclear Research)” Understanding the 2D:4D digit ratio in vitiligo patients may help in clinical assessments.
33 citations
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March 2006 in “Seminars in cutaneous medicine and surgery” The document explains how to identify different hair problems using a microscope.
3 citations
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March 2023 in “Annals of the New York Academy of Sciences” Mutations in claudin-1 and claudin-3 cause hair loss in baby mice.