August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
5 citations
,
January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
23 citations
,
July 2022 in “Nature Cell Biology” Targeting THY1 can improve skin repair and healing.
2 citations
,
January 2018 in “International Journal of Trichology” Two sisters had a rare hair condition without other usual symptoms.
27 citations
,
October 2017 in “British Journal of Dermatology” Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
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.
68 citations
,
August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
8 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
44 citations
,
November 2009 in “Archives of Dermatology” CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
8 citations
,
January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
January 2025 in “International Journal of Dermatology” Consider TFI in facial hypopigmentation diagnoses and confirm with a biopsy.
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.
10 citations
,
January 1997 in “Dermatology” Two siblings were diagnosed with Trichothiodystrophy, identified by brittle hair and low sulfur content.
May 2005 in “Cancer Research” Melanoma cells lose their ability to form tumors when placed in a zebrafish embryo environment.
31 citations
,
November 2015 in “PloS one” Reducing Tyrosinase prevents mature color pigment cells from forming in mouse hair.
24 citations
,
September 2014 in “PloS one” Thyroid hormone receptors are essential for hair growth and wound healing.
12 citations
,
January 1999 in “Journal of Animal Science” Glucocorticoids and thyroid hormones together are essential for fetal fat development.
98 citations
,
July 1983 in “Journal of Steroid Biochemistry” Individuals with this condition often develop male traits and identities at puberty despite being raised as females.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
70 citations
,
April 2014 in “Annales d'endocrinologie” New genes and pathways are important for testosterone production and male sexual development.
3 citations
,
May 2013 in “Pediatric Dermatology” A newborn girl had a rare case of salivary gland tissue on her chest, which was safely removed.
64 citations
,
August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
17 citations
,
April 2009 in “Andrologia” A boy's early puberty caused by a testicular tumor returned to normal after surgery.
2 citations
,
January 1989 Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
1 citations
,
September 2017 in “Zhonghua neifenmi daixie zazhi” Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.
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.
16 citations
,
January 2019 in “Aging” Lack of functional CYLD in mice leads to early aging and cancer.
5 citations
,
November 2021 in “Pediatrics in review” The document concludes that thyroid disorders in children require specific treatments and monitoring, and educational resources are available for further information.
September 2023 in “Journal of the American Academy of Dermatology” Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.