April 2026 in “Zenodo (CERN European Organization for Nuclear Research)” Post-Exposure Syndromes are persistent conditions caused by past exposures, needing unique interventions.
August 2016 in “Journal of the American Academy of Dermatology” The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
12 citations
,
March 1981 in “International Journal of Dermatology” External factors like certain shampoos, bacterial infections, and parasites might cause hair defects similar to genetic conditions.
30 citations
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June 2014 in “Seminars in Immunology” Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
April 2021 in “Pediatric Practice and Research” Early diagnosis and treatment of hair and scalp diseases in children can improve their growth and mental health.
December 2024 in “International Journal of Community Medicine and Public Health” Children with celiac disease often have skin issues, best managed with a gluten-free diet and sometimes medication.
April 2026 in “Zenodo (CERN European Organization for Nuclear Research)” Post-exposure syndromes are persistent conditions caused by past exposures, needing unique interventions.
1 citations
,
November 2003 in “SKINmed Dermatology for the Clinician” A 17-year-old with Netherton syndrome has dry, itchy skin, brittle hair, and high IgE levels, treated with antihistamines and emollients.
Ca²⁺-mediated protein citrullination controls cell growth in the CNS and may help treat brain tumors.
June 2025 in “International Journal of Molecular Sciences” LncRNAs play a crucial role in muscle regulation and could help develop treatments for Duchenne muscular dystrophy.
260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
694 citations
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April 2000 in “Nature genetics” Msx2 deficiency in mice leads to bone growth and organ development problems.
1 citations
,
September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
May 2025 in “Clinical Medicine Insights Case Reports” Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.
18 citations
,
May 2004 in “Archives of Dermatology” Severe nutritional deficiency can cause serious health and development issues, including skin problems and hair loss.
43 citations
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December 2013 in “Seminars in Cell & Developmental Biology” Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
August 2022 in “Journal of Comprehensive Pediatrics” A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
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.
25 citations
,
December 2005 in “Molecular Genetics and Metabolism” Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
12 citations
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February 1986 in “PubMed” Injecting newborn mice with a niacin blocker caused skin, gut, and brain damage similar to human pellagra.
4 citations
,
December 2024 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” Mothers with atopic dermatitis have higher risks of pregnancy complications and their children are more likely to develop certain health conditions.
A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.
65 citations
,
September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
16 citations
,
January 2010 in “Indian Journal of Dermatology, Venereology and Leprology” Children with HIV often have skin problems that can indicate the severity of their immune system damage.
1 citations
,
January 2023 in “Pediatric Dermatology” Early diagnosis and teamwork are crucial for managing ILVASC effectively.
The interdisciplinary approach improved the quality of life for a Parkinson's patient and eased staff workload.
Polarized microscopy helps identify hair irregularities in genetic disorders.
5 citations
,
August 2014 in “Archivos Argentinos de Pediatria” A girl with Turner syndrome had psoriasis, alopecia areata, and trachyonychia.
April 2026 in “Asian journal of pediatric dermatology.” Early diagnosis and targeted therapy improve outcomes for children with skin conditions.
26 citations
,
November 1993 in “Progress in Neuro-psychopharmacology & Biological Psychiatry” Treatment during development affects hormone balance and sexual behavior in male rats.