Trichotillomania involves hair-pulling due to brain and genetic factors, with behavior therapy and new drugs showing promise, but challenges like stigma and underdiagnosis persist.
Hair dysplasias involve various hair disorders causing fragility, breakage, and poor hair adhesion.
Children with chronic kidney disease often have skin, hair, and nail problems.
114 citations
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January 2016 in “Current topics in developmental biology/Current Topics in Developmental Biology” Frizzled receptors are essential for various body development processes and maintaining certain body functions.
8 citations
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July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
1 citations
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March 2025 in “JAAD reviews.” Significant progress has been made in treating skin, hair, and nail disorders in people with skin of color, but disparities still exist.
20 citations
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August 1981 in “Developmental Medicine & Child Neurology” 13 citations
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June 1981 in “Developmental Medicine & Child Neurology”
26 citations
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December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
February 2023 in “Archives of Dermatological Research” A multi-tiered treatment approach is crucial for managing hidradenitis suppurativa in patients with intellectual and developmental disabilities.
January 2006 in “International water power & dam construction” Nevus comedonicus can appear later in life and affect both eyelids.
100 citations
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April 2007 in “Neuroscience” Reducing neurosteroid levels worsens brain injury in fetal sheep.
6 citations
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May 2000 in “Pediatric Dermatology” KID syndrome should be reclassified as an ectodermal dysplasia.
July 2001 in “APMIS. Acta pathologica, microbiologica et immunologica Scandinavica./APMIS” Male children's genital development issues can be caused by genetic mutations or environmental factors affecting hormone action.
4 citations
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April 2017 in “F1000Research” Mitochondrial problems in diabetic nerve damage might cause pain by lowering the production of certain nerve-related steroids.
January 2024 in “Wiadomości Lekarskie” High PMP 22 levels in type 2 diabetes patients may cause hearing loss.
18 citations
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
3 citations
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June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
January 2024 in “Pediatric rheumatology online journal” Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
research Coda
November 2018 in “Princeton University Press eBooks” Vitamin C deficiency harms both the body and brain, affecting behavior.
55 citations
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December 1987 in “Archives of Dermatology” Two enzyme defects in biotin metabolism cause severe skin, hair, and metabolic issues.
1 citations
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December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
20 citations
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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.
1 citations
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February 2023 in “Pediatric Dermatology” Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
23 citations
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February 2004 in “Clinical and Experimental Ophthalmology” A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.
19 citations
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April 1995 in “Clinical Genetics” Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
April 2023 in “Journal of Investigative Dermatology” People with all types of psoriasis are more likely to have autoimmune diseases than those without psoriasis.
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
3 citations
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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.