February 2023 in “Cosmoderma” An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
44 citations
,
August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
July 2025 in “Journal of Dermatology Research Reviews & Reports” A 10-year-old girl with hair and eyelash loss showed significant regrowth after treatment.
2 citations
,
August 2002 in “British Journal of Ophthalmology” Tangent screens help detect visual field defects from vigabatrin.
26 citations
,
August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
2 citations
,
June 2012 in “Dermatologica Sinica” Dermoscopy is useful for diagnosing and monitoring discoid lupus erythematosus by showing specific skin patterns.
2 citations
,
June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
11 citations
,
May 1985 in “Archives of Dermatology” Calcitriol-resistant rickets is an inherited disorder that affects hair growth and causes hair loss.
4 citations
,
April 2020 in “Dermatology practical & conceptual” Reflectance confocal microscopy is useful for diagnosing and monitoring skin diseases, but it has limitations and requires expertise for correct use.
232 citations
,
January 2002 in “Mechanisms of development” Different enzymes are active in different parts of developing mouse organs.
1 citations
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October 2024 in “Veterinary Dermatology” A Cavalier King Charles Spaniel had both uveodermatological syndrome and alopecia areata, and treatment with ciclosporin helped regrow hair.
February 2010 in “Journal of The American Academy of Dermatology” Surgery on a baby with a skin disorder improved eyelid position and eye health.
February 2026 in “Endokrynologia Polska” Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
1 citations
,
January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
109 citations
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June 2011 in “Molecular and Cellular Endocrinology” Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.
11 citations
,
December 2015 in “Indian journal of dermatology, venereology, and leprology” Dermoscopy quickly and accurately diagnosed a rare hair disorder in a 12-year-old girl.
6 citations
,
July 2005 in “Acta Ophthalmologica Scandinavica” Mitochondriopathy may cause eyelash loss.
1 citations
,
April 2025 in “Clinical Cosmetic and Investigational Dermatology” A rare skin lesion in a 64-year-old woman was successfully treated with a laser, showing minimal redness and no return after one month.
January 2026 in “Forum Dermatologicum” Thorough hair examination is crucial for accurate diagnosis and treatment.
July 2010 in “Journal of Investigative Dermatology” Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
February 2021 in “Reactions Weekly” Finasteride and dutasteride may cause macular abnormalities.
July 2018 in “Kidney international” Genetic testing for EGFR mutations is crucial in similar cases.
20 citations
,
January 2002 in “Laboratory Animals” Mutations in the hairless gene cause hair loss and skin cysts in rhesus macaques.
April 1906 in “The American Journal of the Medical Sciences” Keratosis Pilaris Atrophicans causes skin scarring and might be treated with a new synthetic retinoid.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
2 citations
,
May 2006 in “Archives of Pathology & Laboratory Medicine” Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
5 citations
,
July 2009 in “Clinical and experimental dermatology” 28 citations
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August 1981 in “Journal of the American Academy of Dermatology” Retinoic acid is effective for treating eruptive vellus hair cysts.
56 citations
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January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.