82 citations
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April 1981 in “Clinical endocrinology” A girl with rickets and hair loss was found to have a rare condition where her body didn't respond to vitamin D treatment.
11 citations
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September 2010 in “American Journal of Medical Genetics - Part A” A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
1 citations
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October 2024 in “The American Journal of Gastroenterology” Khat use may worsen liver conditions and increase the risk of liver damage.
January 2023 in “Indian dermatology online journal” A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
3 citations
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September 2013 in “Journal of the American Academy of Dermatology” A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
Donor lymphocyte infusions effectively treated leukemia relapse but caused vitiligo and alopecia areata.
November 2025 in “Zenodo (CERN European Organization for Nuclear Research)” Dietary habits and stress management are key to preventing hair loss.
August 2025 in “International Journal of Research in Dermatology” Increasing zinc intake improved skin and hair symptoms in a rare genetic disorder.
November 2025 in “Zenodo (CERN European Organization for Nuclear Research)” Dietary habits and stress management are key to preventing hair loss.
April 2021 in “Authorea (Authorea)” A 20-year-old woman had stable Progressive Hemifacial Atrophy and Vitiligo after treatment, suggesting a possible link between the conditions.
April 2020 in “International journal of research in dermatology” An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
July 2000 in “The Pediatric Infectious Disease Journal” Tinea faciei should be considered in neonatal vesicular lesions and confirmed with KOH examination and culture.
2 citations
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May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
April 2024 in “Anais Brasileiros de Dermatologia” 79 citations
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February 2009 in “Human Genetics” 50 citations
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February 2007 in “The Journal of Pathology” Somatic BHD mutations are rare in Japanese renal tumors.
19 citations
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March 2011 in “The Journal of Dermatology” A child's rare skin disease was triggered by chickenpox.
December 2020 in “Pathology” A man's skin condition and poor diet led to a scurvy diagnosis.
7 citations
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December 2015 in “International Journal of Dermatology” New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
March 2023 in “International Journal of Dermatology” Non-itchy rashes can indicate serious diseases like lupus.
3 citations
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March 2016 in “Experimental Dermatology” A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.
87 citations
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September 2012 in “Journal of Cell Science” Keratins are crucial for tissue strength, and mutations in keratin genes can lead to various diseases, highlighting the need for targeted therapies.
2 citations
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March 2020 in “Skin” Using cidofovir cream for a rare skin disease can cause skin darkening.
7 citations
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March 2018 in “Journal of The American Academy of Dermatology” Skin changes like hair loss, white patches, and nail changes are common in children after bone marrow transplants, often linked to chronic rejection.
13 citations
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July 2016 in “Indian Journal of Dermatology” DPR can show different hair characteristics, as seen in two brothers with normal hair.
12 citations
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February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
1 citations
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September 2022 in “European Journal of Dermatology” Gene sequencing is essential for diagnosing junctional epidermolysis bullosa.
7 citations
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December 2016 in “British Journal of Dermatology” The report suggests that hair loss in Cronkhite-Canada syndrome may be caused by alopecia areata incognita, as shown by a patient's improvement with treatment.
5 citations
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January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
April 2020 in “BMC endocrine disorders” A woman with childhood growth hormone deficiency had multiple hormone deficiencies and developed serious lung and kidney problems later in life.