21 citations
,
January 2000 in “Fetal Diagnosis and Therapy” Prenatal diagnosis of trichothiodystrophy is possible in the second trimester using fetal eyebrow biopsy, with sulfur content analysis being more reliable.
28 citations
,
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.
13 citations
,
June 2006 in “Pituitary” A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
3 citations
,
January 1985 in “Acta Obstetricia Et Gynecologica Scandinavica” A rare ovarian tumor caused early puberty signs in a 1-year-old girl, but surgery reduced hormone levels.
January 2000 in “Linchuang pifuke zazhi” The man had pretibial myxedema and hyperthyroidism, causing skin changes and thyroid issues.
December 2023 in “Research Square (Research Square)” People with Down syndrome have higher rates of certain immune-related conditions and need special medical attention.
February 2025 in “Revista Eletrônica Acervo Saúde” Thyroid tuberculosis can cause hypothyroidism and should be considered when diagnosing cervical masses.
288 citations
,
January 2001 in “Journal of Biological Chemistry” Tgm2 helps stabilize dying cells and aids fibroblast attachment to the extracellular matrix.
31 citations
,
November 2015 in “PloS one” Reducing Tyrosinase prevents mature color pigment cells from forming in mouse hair.
132 citations
,
January 1987 in “Annals of Internal Medicine” Methimazole may cause skin defects in babies if taken during pregnancy.
50 citations
,
December 2005 in “European Journal of Immunology” RXRα is crucial for proper immune response and links diet to immune function.
1 citations
,
June 2023 in “Acta veterinaria” Maternal hypothyroidism harms skin development in rat offspring.
2 citations
,
September 1971 in “Metabolism, clinical and experimental” Dihydrotestosterone has a reduced effect on muscle-building in people with testicular feminization syndrome, especially after their gonads are removed.
1 citations
,
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Fetal skin has unique immune cells different from adult skin.
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.
November 2023 in “Вопросы современной педиатрии” Genetic testing can diagnose hair loss linked to DSG4 gene variants.
3 citations
,
January 2013 Hypothyroidism in dogs is usually caused by immune system issues or gland atrophy, affects middle-aged purebreds most, and is treatable with medication.
1 citations
,
May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
2 citations
,
May 2018 in “PubMed” Pregnant women with isolated hypothyroxinemia face more health issues, so iodine and folic acid supplements are important before and during early pregnancy.
46 citations
,
March 2005 in “Endocrinology” Overexpression of the glucocorticoid receptor in mice causes developmental defects similar to ectodermal dysplasia.
12 citations
,
December 2022 in “Current Protein and Peptide Science” Thymosin β4 helps in cell activities, healing, and organ preservation, and treats hair loss and skin injuries.
2 citations
,
December 2024 in “Children” Thyroid disorders can cause skin issues in children, so early detection and screening are important.
11 citations
,
January 1973 in “BMJ” Primary hypothyroidism can mimic pituitary failure but improves with hormone therapy.
35 citations
,
October 2017 in “JAMA dermatology” Children with alopecia areata should only have thyroid screening if they have Down syndrome, a history of atopy, family history of thyroid disease, or signs of thyroid problems.
15 citations
,
May 2010 in “Pediatrics in Review” Delayed puberty often runs in families, can affect growth, and may need hormone treatment.
Skin changes can help predict thyroid diseases.
6 citations
,
March 2020 in “Anais Brasileiros de Dermatologia” Thyroid disease can cause skin and hair changes, treatable with levothyroxine.
13 citations
,
February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
97 citations
,
March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
68 citations
,
August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.