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.
7 citations
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April 2021 in “Journal of Lower Genital Tract Disease” Erosive lichen sclerosus is a distinct subtype with specific skin features, and treatment led to complete resolution in half of the cases.
April 2025 in “BMC Urology” Thorough evaluations and conservative management can lead to positive outcomes in pediatric adrenocortical carcinoma.
October 2021 in “Dermatology practical & conceptual” A Saudi girl was diagnosed with Loose Anagen Hair Syndrome, a rare condition causing easy hair loss without scarring.
A 10-year-old girl's symptoms improved after surgery to remove a benign adrenal tumor.
13 citations
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December 2010 in “Annales de Dermatologie et de Vénéréologie” The conclusion is that skin, mucous, and eye problems after Stevens-Johnson syndrome and Lyell syndrome significantly affect patients' lives, highlighting the need for comprehensive care and eye check-ups.
4 citations
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April 2018 in “The journal of pediatrics/The Journal of pediatrics” A 6-year-old girl's inability to grow her hair long was due to Loose Anagen Hair Syndrome, which causes hair to shed easily and may improve with age.
May 2024 in “JAAD Case Reports” A young man was diagnosed with a rare hair loss condition usually seen in older women.
October 2024 in “Journal of the Endocrine Society” Ovarian steroid cell tumors can mimic adrenal hyperplasia, and surgery can normalize hormone levels.
July 2012 in “American Journal of Clinical Pathology” Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
November 2023 in “Global Medical Genetics” Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
January 2024 in “Revista Dermatológica Centro Uraga” The patient has Chronic Cutaneous Lupus, a skin condition causing plaques and hair loss.
January 1998 in “The Nishinihon Journal of Dermatology” A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
October 2019 in “European Journal of Dermatology” The boy's hair and skin color differences are due to a pigmentation disorder.
6 citations
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December 2004 in “Anais Brasileiros de Dermatologia” Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
100 citations
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May 2011 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
Lifestyle factors like BMI at young adulthood can increase cancer risk in women with Lynch Syndrome, but diet and height don't seem to affect this risk.
February 2026 in “Journal of Clinical Research in Pediatric Endocrinology” Children with Turner Syndrome often have skin, hair, and nail issues linked to hormonal problems, so regular skin checks are recommended.
November 2024 in “JAAD Case Reports” A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
10 citations
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March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
November 2007 in “Pediatrics in review” A boy with long QT syndrome was treated successfully, highlighting the need for careful evaluation of chest pain in children for heart conditions like LQTS.
11 citations
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January 2013 in “Indian Journal of Endocrinology and Metabolism” A woman with a rare adrenal tumor and hormonal disorder had improved testosterone levels after surgery, but her menstrual irregularities continued.
13 citations
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May 1996 in “Archives of Disease in Childhood” Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
2 citations
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October 2018 in “The journal of pediatrics/The Journal of pediatrics” The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
2 citations
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May 2023 in “Indian Journal of Dermatology Venereology and Leprology” A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
12 citations
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March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
9 citations
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July 2010 in “British Journal of Dermatology” The document suggests a rare skin condition might be caused by a genetic phenomenon.
April 2012 in “Neuropediatrics” Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
81 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
151 citations
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December 2004 in “Annals of the New York Academy of Sciences” Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.