2 citations
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May 2020 in “Journal of the American Academy of Dermatology” Hair shaft changes may be linked to CCCA, but their role is unclear.
14 citations
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May 2019 in “Human gene therapy” MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
November 2025 in “Journal of Investigative Dermatology” PCFCL may have unrecognized subtypes and needs more research.
September 2009 in “European Urology Supplements” Cone beam computed tomography can allow for smaller safety margins around the target area in prostate cancer radiation treatment if used for ongoing treatment checks.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
14 citations
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
43 citations
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September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
1 citations
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April 2022 in “The Journal of Family Practice” CCCA causes progressive hair loss in Black women, starting from a central scalp patch.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
11 citations
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September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
Understanding genetics is crucial for treating heart and skin diseases.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
1 citations
,
November 2016 in “Frontiers in neurology” Steroid treatment improved both gut and nerve symptoms in a man with Cronkhite–Canada syndrome.
December 2024 in “International Journal of Community Medicine and Public Health” Children with celiac disease often have skin issues, best managed with a gluten-free diet and sometimes medication.
28 citations
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November 2013 in “The FASEB journal” Mice with CBS deficiency are healthier on a low-methionine diet.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
Men with CCCA often face delayed diagnosis and severe hair loss, highlighting the need for earlier recognition and treatment.
August 2023 in “JAAD international” Most patients with Central Centrifugal Cicatricial Alopecia at the reviewed institution were middle-aged Black women, often with no symptoms, and commonly treated with topical medications.
January 1995 in “Adolescent and pediatric gynecology” Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
6 citations
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December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
19 citations
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January 2015 in “Skin appendage disorders” The report found a new type of hair loss in African-American women that affects more areas of the scalp than previously thought.
4 citations
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October 2018 in “Asia-Pacific Journal of Clinical Oncology” CDK4/6 inhibitors have improved treatment outcomes for certain advanced breast cancer patients.
1 citations
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September 2019 in “Steroids” Two new mutations in the AR gene linked to severe androgen insensitivity were found.
January 2016 in “e-Oftalmo CBO Revista Digital de Oftalmologia” CSC is linked to mineralocorticoid receptor damage, stress, and steroid use, with treatments including drugs and laser therapies to prevent eye damage.
3 citations
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August 2020 in “Journal of The American Academy of Dermatology” Degenerative changes in the lower cervical spine are common in patients with abnormal scalp sensations, with some improvement seen using pain medication and physical therapy.
81 citations
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July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
6 citations
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September 2009 in “European journal of histochemistry” CD90 is present on specific cells in dog hair follicles.
June 2025 in “Australasian Journal of Dermatology” Pigmented rings with central clearing help diagnose melasma more accurately.