49 citations
,
August 1999 in “Journal of Investigative Dermatology” Overexpressing the MSX-2 gene in mice causes skin and hair growth issues.
Tjalma Syndrome is a rare condition in people with lupus, causing fluid buildup and high CA-125 levels, but not due to tumors.
January 2026 in “Acta Dermato Venereologica” Dupilumab effectively treats severe skin issues in a rare genetic disorder.
3 citations
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November 2021 in “Protein and Peptide Letters” β-thymosin in invertebrates is more complex and diverse than in vertebrates.
April 2018 in “Journal of Investigative Dermatology” Aging reduces skin cell renewal and defense against germs due to TGFbeta, but blocking TGFbeta could help restore these functions.
28 citations
,
July 2007 in “Development” TAF4 is important for skin cell growth and helps prevent skin cancer in mice.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
3 citations
,
July 2024 in “Cell Proliferation” Blocking TGFβ can help treat fibrotic skin conditions by promoting fat cell formation.
3 citations
,
December 2013 in “American Journal of Dermatopathology” A rare skin growth in a baby was successfully removed without coming back.
66 citations
,
March 2018 in “British journal of dermatology/British journal of dermatology, Supplement” An imbalance between certain immune cells is linked to a chronic skin condition and may be influenced by obesity, smoking, and autoimmune issues.
15 citations
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March 2009 in “Pediatric dermatology” A young girl developed unusually long eyelashes with a hair loss condition without other health issues or medication causes.
November 2025 in “The Journal of Immunology” BST2 is highly expressed in certain immune cells in alopecia areata, suggesting a role in the disease.
15 citations
,
May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
33 citations
,
January 2007 in “Pediatric dermatology” Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
53 citations
,
January 2011 in “Diabetes” People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
2 citations
,
November 1998 in “Journal of The European Academy of Dermatology and Venereology” Prednisone reduces organ mast cell infiltration but does not alter the abnormal appearance of mast cells in systemic mastocytosis.
Low vitamin D3 is not linked to different levels of thyroid hormones in people with autoimmune thyroid disease.
February 2010 in “ePrints Soton (University of Southampton)” Male sexual differentiation is regulated independently, while female differentiation occurs in an androgenic environment, affecting conditions like congenital adrenal hyperplasia.
October 2021 in “Journal of Investigative Dermatology” The study concludes that as skin matures from infancy to childhood, there are major changes in cell differentiation, stemness, and growth, leading to a stronger skin barrier in older children.
2 citations
,
April 2015 in “Journal of Evolution of Medical and Dental Sciences” Most hypothyroid patients experience dry skin and swelling.
June 2025 in “British Journal of Dermatology” Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.
November 2024 in “Malaysian Journal of Microbiology” Patients with thyroid disorders show different symptoms and antibody levels.
14 citations
,
December 2007 in “Pediatric allergy and immunology” Newborns with the common rash Erythema Toxicum have many active mast cells in their skin, but these cells don't produce the LL-37 peptide.
7 citations
,
January 2013 in “Indian dermatology online journal” A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
January 2026 in “Animals” TBX3 gene affects pigmentation and marking formation in Dun Mongolian horses.
17 citations
,
May 2013 in “Journal of Investigative Dermatology” Mutations in β1 integrins cause embryonic death but have milder effects on skin.
64 citations
,
May 2000 in “International Journal of Dermatology” Thalidomide improved lupus symptoms but caused nerve damage in some patients.
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
2 citations
,
August 2023 in “Journal of Endocrinological Investigation” Excess maternal androgens can cause heart problems in offspring.
53 citations
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July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.