3 citations
,
January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
5 citations
,
June 2008 in “British Journal of Dermatology”
32 citations
,
April 2019 in “JAAD case reports” JAK inhibitors helped treat hair loss in two people with Down syndrome.
March 2012 in “Journal of The American Academy of Dermatology” Hand-foot-mouth disease may cause nail loss in children.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
November 2025 in “American Journal of Case Reports” Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
10 citations
,
February 2022 in “JMIR Dermatology” People with Down syndrome often have skin issues and need regular check-ups for early treatment.
1 citations
,
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Tofacitinib helps improve skin conditions in people with Down syndrome, especially alopecia areata.
8 citations
,
April 2010 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” The first pediatric case of naevus trichilemmocysticus was documented.
July 2011 in “Journal of Pediatric and Adolescent Gynecology” A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.
January 2009 in “Chinese Journal of Evidence-Based Pediatrics” Neonatal lupus symptoms usually resolve, but some children may develop other autoimmune diseases later.
1 citations
,
September 2022 in “European Journal of Dermatology” Gene sequencing is essential for diagnosing junctional epidermolysis bullosa.
31 citations
,
January 2014 in “Journal of endocrinological investigation” Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
March 2018 in “The journal of applied laboratory medicine” The rash on the infant indicated a serious underlying condition.
October 2019 in “European Journal of Dermatology” The boy's hair and skin color differences are due to a pigmentation disorder.
9 citations
,
October 1995 in “Clinical Dysmorphology” The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
20 citations
,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
46 citations
,
September 2007 in “Journal of Investigative Dermatology” 20 citations
,
January 1997 in “Dermatology” The patient with EEC syndrome had scarring alopecia due to deep folliculitis, possibly linked to abnormal hair structure.
11 citations
,
January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
January 2006 in “Dianzi xianwei xuebao” Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
November 2023 in “Вопросы современной педиатрии” Genetic testing can diagnose hair loss linked to DSG4 gene variants.
July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
19 citations
,
December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
75 citations
,
September 1985 in “Archives of dermatology” Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
January 2021 in “Dermatology online journal” One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.
November 2022 in “Journal of Investigative Dermatology” Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
January 1962 in “Archives of Dermatology” A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.