6 citations
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June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
78 citations
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May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
March 2023 in “Journal of Cosmetic Dermatology” Trichoscopy is effective for diagnosing scalp ACC in darker skin tones.
1 citations
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January 2015 in “Advanced techniques in biology & medicine” Down Syndrome patients with Alopecia Areata often have hypothyroidism and specific immune abnormalities.
3 citations
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May 2023 in “Pediatric Dermatology” A 9-year-old boy had a rare scalp condition usually seen in young men.
1 citations
,
June 2015 in “Australasian Journal of Dermatology” A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.
5 citations
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October 2012 in “The Journal of Dermatology” Traumatic panniculitis can cause increased hair growth in affected areas.
Nicolaides-Baraitser syndrome may cause eczema and hair loss, needing early skin care and treatment.
5 citations
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December 1964 in “Australasian journal of dermatology” Congenital atrichia is a rare condition where children are born without hair, and treatment is often ineffective.
28 citations
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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.
September 1998 in “Journal of the European Academy of Dermatology and Venereology” September 2001 in “Swiss Medical Forum ‒ Schweizerisches Medizin-Forum”
January 2017 in “International journal of biomedical engineering and clinical science” Cri-du-chat syndrome can cause skin and oral lesions affecting nutrition and quality of life.
26 citations
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December 2003 in “Experimental Dermatology” Specific keratin gene mutations can cause monilethrix.
21 citations
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March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
1 citations
,
May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
66 citations
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June 2018 in “British Journal of Dermatology” European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
1 citations
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January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
2 citations
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April 2008 in “Advances in therapy” Proper diagnosis and treatment of childhood hair loss require distinguishing between alopecia and trichotillomania.
28 citations
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June 1998 in “Clinical Genetics” Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
8 citations
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July 2014 in “Anais Brasileiros de Dermatologia” A man's scalp condition was misidentified as hair loss dots but was actually a common follicular disorder.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
Polarized microscopy helps identify hair irregularities in genetic disorders.
5 citations
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August 2002 in “Veterinary Dermatology” Combining terbinafine and mitotane effectively treated a schnauzer's skin infection and hormone disorder.
July 2018 in “Kidney international” Genetic testing for EGFR mutations is crucial in similar cases.
20 citations
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April 2000 in “Experimental dermatology” ODC transgenic mice can model human hair loss with skin lesions.
30 citations
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August 2018 in “Dermatology and Therapy” Better-designed, long-term studies are needed to optimize treatment for trichotillomania and trichophagia.
January 2017 in “Turkiye Klinikleri Journal of Dermatology” A 9-month-old baby had a rare, persistent ring-shaped hair loss condition.
November 2013 in “International Journal of Medical and Health Sciences” Doctors often miss Hair Tourniquet Syndrome, which can lead to serious damage if not treated quickly.
1 citations
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November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.