43 citations
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February 2013 in “Developmental dynamics” Foxi3 expression in developing teeth and hair is controlled by the ectodysplasin pathway.
2 citations
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May 1979 in “PubMed” Monilethrix is not caused by a metabolic defect.
July 2024 in “LA CIENCIA AL SERVICIO DE LA SALUD Y NUTRICIÓN” The condition is harmless, doesn't worsen, and needs no invasive treatment.
26 citations
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October 1998 in “Experimental Dermatology” A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
7 citations
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May 1996 in “PubMed” Milia en plaque can be caused by skin damage, tumors, or external factors.
1 citations
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February 2013 in “Clinical pediatrics” The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
60 citations
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March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
3 citations
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April 2017 in “Medicine” An 11-year-old boy in Saudi Arabia has a rare case of hypoparathyroidism with severe brain calcifications but normal development and no known cause.
15 citations
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April 2007 in “Journal of child neurology” An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
January 2018 in “Indian Dermatology Online Journal” A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
11 citations
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March 2004 in “Journal of Comparative Pathology” Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.
28 citations
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February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
4 citations
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January 2014 in “Indian dermatology online journal” Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
May 2017 in “Journal of the American Academy of Dermatology” Monilethrix is a rare, inherited condition causing fragile hair and hair loss, with no cure but some treatments may help.
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.
June 2026 in “Clinical Case Reports” Topical minoxidil and tretinoin improved hair growth in a girl with EDSS1 over two years.
32 citations
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January 1971 in “Annals of Internal Medicine” People with anhidrotic ectodermal dysplasia may get severe bronchitis if exposed to dust.
7 citations
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October 2020 in “Wiener medizinische Wochenschrift” THA is a rare condition with no significant clinical consequences if thyroid function is normal.
June 2025 in “British Journal of Dermatology” Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.
13 citations
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January 2001 in “Pediatric dermatology” A dark-haired Chinese girl had hair that looked banded under certain light but was normal under a microscope.
21 citations
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June 1991 in “Journal of Inherited Metabolic Disease” Selenium deficiency caused symptoms in a child, which improved with selenium supplements.
2 citations
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August 1994 in “Archives of dermatology” A 19-month-old boy with a rare hair disorder showed mild improvement with treatment, but his family chose gentle hair care due to limited success.
2 citations
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May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
7 citations
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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.
9 citations
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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.
69 citations
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May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
13 citations
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January 2012 in “International journal of trichology” The study found that hair fragility in Pili annulati may be caused by cavities and damage within the hair shafts.
October 2025 in “Indian Journal of Paediatric Dermatology” Zinc treatment improved skin and hair issues in a boy with a zinc-related condition.
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.
12 citations
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November 1987 in “Pediatric dermatology” Four children had unmanageable pale blond hair due to uncombable-hair syndrome.