6 citations
,
August 2012 in “The Journal of Pediatrics” A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
28 citations
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August 2001 in “Journal of cutaneous medicine and surgery” People with Down's syndrome often have more skin problems due to a weak immune system.
5 citations
,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
20 citations
,
January 2005 in “Australasian Journal of Dermatology” A woman had a skin condition with increased normal elastic fibers, not related to other known disorders, likely due to aging.
Melanin-rich skin has unique challenges in diagnosing and treating skin diseases.
July 2025 in “Journal of Investigative Dermatology” Androgens reduce THY1 in skin cells, leading to less fat, more fibrosis, and worse healing in males.
5 citations
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September 2023 in “Frontiers in Medicine” Early dermatological referrals are important for women and girls with Turner syndrome to improve life quality.
The woman's skin and health issues were due to a severe zinc deficiency.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
July 2024 in “Journal of Investigative Dermatology” 22 citations
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November 1979 in “Archives of dermatology” A woman with Fox-Fordyce disease had symptom relief using tretinoin cream.
2 citations
,
November 2022 in “IP Indian journal of clinical and experimental dermatology” Dermoscopic and histopathological features combined can help diagnose Pityriasis versicolor.
4 citations
,
January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
33 citations
,
October 2012 in “Journal of Morphology” Reptile skin hardens by layering beta-proteins on keratin.
3 citations
,
August 2010 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” A rare genetic disease caused severe, worsening hair loss from early childhood with poor treatment results.
3 citations
,
January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
Genetic testing can help diagnose skin conditions but needs more research for full effectiveness.
1 citations
,
May 2006 in “Thyroid Research and Practice” Skin can become dry and thick in hypothyroidism.
Pangolin scales evolved for protection, hardening with age, due to keratin gene diversification.
12 citations
,
June 2013 in “International Journal of Dermatology” Seborrheic keratosis shows varied cell differentiation, and keratin analysis helps diagnose skin tumors.
December 2004 in “PLoS ONE” The Foxn1(-/-) phenotype disrupts hair growth and affects skin stem cells.
1 citations
,
July 2023 in “Clinical Cosmetic and Investigational Dermatology” Familial dyskeratotic comedones are a rare, benign skin disorder that is hard to treat.
6 citations
,
May 2013 in “PloS one” The Foxn1(-/-) nude mouse shows disrupted and expanded skin stem cell areas due to high Lhx2 levels.
9 citations
,
September 2021 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Certain skin symptoms can indicate underlying body-wide illnesses.
September 2022 in “JAMC. Journal of Ayub Medical College, Abbotabad, Pakistan/Journal of Ayub Medical College” A boy with a rare skin condition improved quickly after starting zinc supplements.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
February 2023 in “JAAD case reports” Reducing immunosuppression and using antiviral creams improved the woman's skin condition.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
Atopic dermatitis affects the appearance of skin reactions, making certain features more common and improving diagnostic accuracy with dermoscopy.
17 citations
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January 2014 in “Journal of Oral and Maxillofacial Pathology” Seborrheic keratosis is a common, harmless skin growth that can look like cancer, so it may need a biopsy.