February 2025 in “American Journal of Biomedical Science & Research” A rare combination of hair loss and excessive fine hair growth was found in celiac disease patients.
July 2020 in “Endocrine practice” A 13-year-old boy with Cushing syndrome has high cortisol levels from a pituitary gland issue and underdeveloped sexual characteristics.
199 citations
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April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
1 citations
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May 2013 in “Hair transplant forum international” Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
2 citations
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January 1987 in “PubMed” Woolly hair syndrome is a genetic condition causing frizzy, fragile hair.
August 2025 in “The Nishinihon Journal of Dermatology” Prednisolone treatment improved symptoms and hair regrowth in a patient with Cronkhite-Canada Syndrome.
3 citations
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January 2017 in “Dermatology online journal” Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
1 citations
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January 2013 in “Pediatric Annals” The girl's thin hair was due to loose anagen syndrome, not other hair loss types.
15 citations
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April 2016 in “Hormones” Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.
2 citations
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January 2001 in “Humana Press eBooks” Pseudo-Cushing's symptoms disappear once the underlying issue is resolved.
3 citations
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January 2012 in “Internal Medicine” A Rathke's cleft cyst caused hormonal imbalances and symptoms in a 68-year-old woman.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
10 citations
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January 1995 in “Dermatology” Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
December 2023 in “International Journal of Dermatology”
18 citations
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November 2016 in “Neuromuscular Disorders” Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.
September 2014 in “Journal of the American Academy of Dermatology” The girl likely has Loose anagen hair syndrome, which may improve on its own or with minoxidil.
5 citations
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January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
2 citations
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November 2011 in “Pediatric dermatology” 41 citations
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May 2020 in “Frontiers in immunology” Hidradenitis suppurativa might be a type of autoinflammatory skin disease.
5 citations
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June 1993 in “Pediatric dermatology” Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
2 citations
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February 2018 in “Journal of dermatology & cosmetology” Triangular temporal alopecia is a benign hair loss pattern best diagnosed with dermoscopy, with limited treatment options like surgery and hair transplantation.
October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
13 citations
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June 2012 in “European journal of medical genetics” Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
August 2022 in “Acta dermato-venereologica” Propylthiouracil can cause hair loss, reduced sweating, and nail issues, but stopping the drug can reverse hair and nail problems.
RCVS should be considered in thunderclap headaches, and MRA and DSA are better for diagnosis than CT angiogram.
November 2024 in “Journal of Investigative Dermatology” Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
1 citations
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September 2019 in “Steroids” Two new mutations in the AR gene linked to severe androgen insensitivity were found.
September 2024 in “Cureus” A 10-year-old boy's nail condition is mainly cosmetic and improves over time with treatment.