2 citations
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January 2024 in “Revista Paulista de Pediatria” This case report describes a 6-year-old girl with a severe phenotype of mandibuloacral dysplasia type A (MADA) linked to a rare homozygous LMNA missense mutation (c.1579C>T). The patient exhibited subtotal alopecia, distinct craniofacial features, generalized lipodystrophy, joint stiffness, and significant bone and skin abnormalities. Radiological findings included severe bone dysplasia and osteopenia. MADA, an autosomal recessive disorder, typically results from the p.R527H mutation in the LMNA gene, but this case involves the rare p.R527C mutation, marking the sixth family reported with this mutation.
July 2019 in “Cancer Research” Bone marrow and hair follicle cells help form skin tumors, suggesting new treatment targets.
July 2019 in “Tumor Biology” Bone marrow-derived cells contribute to skin tumors, suggesting new treatment targets for non-melanoma skin cancers.
April 2012 in “Cancer Research” Bone marrow-derived cells can lead to skin inflammation and tumors in mice.
January 2019 in “SAGE Open Medical Case Reports” A scalp biopsy revealed systemic amyloidosis in a woman who initially seemed to have a common hair loss condition.
5 citations
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January 2020 in “Wiadomości lekarskie (Warsaw Poland)” Patients with both connective tissue disease and acid reflux are more likely to have certain symptoms and physical signs.
2 citations
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January 2019 in “Springer eBooks” The conclusion is that different blood diseases cause specific oral symptoms and require varied treatments to manage these symptoms and improve patient health.
3 citations
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January 2023 in “Physiological Research” Conditioned media from mesenchymal stem cells show promise for tissue repair and disease treatment, but more research is needed on their safety and effectiveness.
197 citations
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June 2009 in “American journal of human genetics” WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
176 citations
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January 2003 in “Journal of Investigative Dermatology” Bone Morphogenetic Proteins (BMPs) help control skin health, hair growth, and color, and could potentially be used to treat skin and hair disorders.
160 citations
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January 2017 in “Development” Blood vessels and specific genes help turn cartilage into bone when bones heal.
96 citations
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June 2017 in “Nature Communications” A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
80 citations
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March 2004 in “Neuropediatrics” Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
9 citations
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November 2019 in “Cell calcium” The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
45 citations
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February 2001 in “Joint bone spine” Gonadal dysgenesis, like Turner's and Klinefelter's syndromes, negatively affects bone health, but hormone treatments can help.
85 citations
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August 2015 in “Journal of Applied Genetics” Mutations in specific genes disrupt development of sweat glands, teeth, hair, skin, and nails in HED.
1 citations
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April 2025 in “Pediatria i Medycyna Rodzinna” Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
1 citations
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November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
109 citations
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October 2007 in “American Journal of Human Genetics” Giving a special protein to dogs with a certain genetic disease improved their symptoms but didn't help with hair growth.
32 citations
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November 2016 in “Journal of Dental Research” Pannexin 3 is important for bone formation and the development of bone cells.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
1 citations
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April 2016 in “Journal of Investigative Dermatology” Patients with Focal Dermal Hypoplasia often experience skin, nail, hair, and bone issues, and may benefit from calcium and vitamin D supplements.
374 citations
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May 2016 in “The Lancet. Diabetes & endocrinology” Cushing's syndrome can cause serious health problems, and early treatment is crucial, but some issues may remain after treatment.
131 citations
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March 2004 in “The American journal of pathology” Modulating BMP activity changes the number, size, shape, and type of ectodermal organs.
60 citations
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July 2011 in “Stem Cells and Development” Certain signals and genes play a key role in hair growth and regeneration, and understanding these could lead to new treatments for skin regeneration.
21 citations
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January 2005 in “Skinmed” Hair and nails are similar keratin structures with different shapes and growth, affected by the same diseases and environmental factors.
11 citations
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May 2011 in “World Journal of Pediatrics” The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
1 citations
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February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
1 citations
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November 1998 in “Journal of Small Animal Practice” The dog had a Sertoli cell tumor, which was successfully removed with surgery.