November 2025 in “Journal of Saidu Medical College Swat” Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.
1 citations
,
September 2012 in “Journal of Investigative Dermatology” Aging reduces stem cell activation, leading to hair loss in mice lacking a specific enzyme.
11 citations
,
March 2001 in “Clinics in Dermatology” Hair microscopy is useful for diagnosing hair disorders, but clear definitions are needed for accurate genetic analysis.
55 citations
,
December 1987 in “Archives of Dermatology” Two enzyme defects in biotin metabolism cause severe skin, hair, and metabolic issues.
October 2024 in “Skin Research and Technology” Pili annulati causes zebra-striped hair but doesn't affect hair strength or quality of life.
June 2026 in “Skin Appendage Disorders” Pili annulati may be more common than thought, so recognizing its features is important for diagnosis.
April 2023 in “Dentistry” Baby teeth stem cells can potentially grow organs and treat diseases.
3 citations
,
September 2021 in “Experimental and Therapeutic Medicine” Early diagnosis of Keratosis pilaris atrophicans faciei can lead to better, personalized treatments.
30 citations
,
February 2015 in “Anais Brasileiros de Dermatologia” Trichoscopy is useful for diagnosing Netherton syndrome in children with skin issues.
January 2015 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” A 5-year-old girl with McCune-Albright syndrome grew abnormal hair due to the drug tamoxifen.
16 citations
,
October 1992 in “Journal of cutaneous pathology” Bubble hair deformity may be caused by hair shaft trauma and can improve with gentle hair care.
1 citations
,
March 2024 in “Pediatric Dermatology” Neonatal nasal injuries can heal with basic care but often leave scars.
2 citations
,
October 1931 in “Archives of Dermatology and Syphilology” A rare scalp infection in a child developed into a kerion with additional skin symptoms.
4 citations
,
January 2017 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” A thorough approach is crucial for accurately diagnosing hair loss in children.
32 citations
,
April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of keratin K2 causes skin problems and inflammation.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
1 citations
,
May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
January 2017 in “Zurich Open Repository and Archive (University of Zurich)”
25 citations
,
October 1996 in “Dermatologic Clinics” Loose Anagen Syndrome causes easy-to-pull, thin hair, mainly in young girls, and improves with age.
November 2012 in “Annales de Dermatologie et de Vénéréologie” Frontal fibrosing alopecia can occur in children, not just postmenopausal women.
11 citations
,
September 2010 in “American Journal of Medical Genetics - Part A” A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
12 citations
,
December 1965 in “Immunology and Cell Biology” Mild skin injury can trigger mineral deposits in rat skin, even without full calciphylactic response.
1 citations
,
September 2017 in “BMJ” The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.
September 2019 in “Journal of Investigative Dermatology” Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
20 citations
,
September 2018 in “Journal of cutaneous pathology” Different skin diseases show unique patterns of skin cell separation, cell death, and granular layer changes.
3 citations
,
March 2017 in “Pediatric Dermatology” FOXN1 duplication can cause excessive hair growth.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
6 citations
,
December 2004 in “Anais Brasileiros de Dermatologia” Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
7 citations
,
July 2006 in “Journal of cutaneous pathology” A 21-year-old had a rare developmental anomaly with a misplaced sebaceous gland in a hair follicle.
61 citations
,
September 1994 in “Journal of Medical Genetics” Pachyonychia congenita is linked to a keratin gene on chromosome 17.