175 citations
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December 1980 in “Archives of Dermatology” Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
June 2022 in “Indian Journal of Ophthalmology/Indian journal of ophthalmology” Early and aggressive treatment is crucial for preserving vision in infants with AEC syndrome.
37 citations
,
June 2002 in “The Laryngoscope” Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
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.
197 citations
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June 2009 in “American journal of human genetics” WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
3 citations
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January 2024 in “Cureus” Eyelash extensions can cause eye problems like itching, redness, and heavy eyelids.
January 2026 in “Frontiers in Medicine” A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
June 2022 in “Indian journal of clinical and experimental opthalmology” The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
July 2020 in “Nepalese journal of ophthalmology” A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.
109 citations
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October 2007 in “American Journal of Human Genetics” Giving a special protein to dogs with a certain genetic disease improved their symptoms but didn't help with hair growth.
85 citations
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August 2015 in “Journal of Applied Genetics” Mutations in specific genes disrupt development of sweat glands, teeth, hair, skin, and nails in HED.
30 citations
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June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
1 citations
,
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.
35 citations
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April 2014 in “American Journal of Medical Genetics” Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
23 citations
,
November 2001 in “Archives of Dermatology” Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
36 citations
,
August 2018 in “Dermatologic Clinics” Trichoscopy is a useful tool for diagnosing hair disorders without pulling out hair.
11 citations
,
May 2011 in “World Journal of Pediatrics” The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
7 citations
,
May 2018 in “Curēus” Bimatoprost 0.03% solution effectively promotes eyebrow growth.
5 citations
,
September 1986 in “Pediatric Dermatology” A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
466 citations
,
August 2004 in “Journal of the American Academy of Dermatology” Rosacea is a skin condition with unclear causes, classified into four subtypes.
105 citations
,
February 2017 in “British Journal of Dermatology” Survivors of Stevens-Johnson syndrome/toxic epidermal necrolysis need ongoing care for various long-term health problems.
32 citations
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April 1994 in “Journal of the American Academy of Dermatology” High androgen levels and genetic factors likely cause Becker's nevus and related symptoms.
26 citations
,
November 1968 in “The Lancet” Malnourished Andean Indian children had abnormal hair roots compared to healthy children.
20 citations
,
November 1968 in “The Lancet” Potassium levels affect blood sugar and insulin during dialysis, and malnutrition changes children's hair roots.
2 citations
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September 2021 in “Orphanet Journal of Rare Diseases” People with hypohidrotic ectodermal dysplasia are more likely to experience long-term fatigue and hair loss after COVID-19.
2 citations
,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
33 citations
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October 2017 in “Drug Safety” SJS/TEN survivors often have severe, overlooked long-term physical problems that are not properly treated after leaving the hospital.
32 citations
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December 1969 in “The Lancet” Children with marasmus have more resting hair follicles and thinner, less pigmented hair, showing long-term malnutrition.