1 citations
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September 2018 in “Australasian Journal of Dermatology” A boy with GAPO syndrome had hair loss similar to male pattern baldness without hormone issues, possibly due to skin or blood vessel problems.
26 citations
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June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
June 2024 in “Dermatopathology” A rare type of skin cancer on the scalp can be mistaken for hair loss, causing delayed diagnosis and severe damage.
9 citations
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July 2018 in “European Journal of Dermatology” Brodalumab effectively treated a man's severe hand and foot psoriasis.
75 citations
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October 2010 in “Mammalian genome” Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
June 2018 in “Dermatologic Surgery” 12 citations
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January 2001 in “Der Hautarzt” Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
5 citations
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July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
20 citations
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September 2018 in “Journal of cutaneous pathology” Different skin diseases show unique patterns of skin cell separation, cell death, and granular layer changes.
34 citations
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December 1995 in “Pediatric Dermatology” Congenital Triangular Alopecia is a rare, non-scarring hair loss that can be surgically treated in females for cosmetic reasons.
7 citations
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February 2019 in “Anais Brasileiros de Dermatologia”
4 citations
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July 2012 in “Linguistic Annotation Workshop” Root hairs in barley improve growth and zinc uptake in zinc-deficient soil.
19 citations
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January 2015 in “Development” Hoxc8 gene helps start mammary gland development by controlling specific signals.
2 citations
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January 1990 in “PubMed” Perforating folliculitis is a skin condition with small bumps that may be linked to other diseases and is hard to treat.
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.
February 2026 in “The Laryngoscope” Airway issues can occur in Conradi–Hünermann–Happle syndrome and can be managed with minimally invasive procedures.
January 2022 in “Indian dermatology online journal” Pigmented papules on the ear can be a rare skin condition called cutaneous amyloidosis, treatable with topical tretinoin.
January 2025 in “Dermatology Review” Giant keratoacanthoma can look like squamous cell carcinoma, requiring careful diagnosis and surgical removal.
28 citations
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June 1998 in “Clinical Genetics” Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
2 citations
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November 2017 in “Journal of Endocrinological Investigation” The painting of an 18th-century Sicilian baroness shows she had hair loss, possibly due to ovarian issues, insulin resistance, or a specific type of tumor.
4 citations
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October 2023 in “Children” Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
Mohamed Kandil suggests renaming Polycystic Ovary Syndrome to "Polyfollicular Anovulatory Androgenic Syndrome" to better describe its symptoms, but concerns exist that it may not cover all related issues like obesity and depression.
January 2016 in “프로그램북(구 초록집)” The revised BASP classification for hair loss is less accurate and harder to use but could still be a viable option.
November 2022 in “Journal of Investigative Dermatology” Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
9 citations
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January 1975 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
56 citations
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July 2004 in “Mechanisms of Development” Pax9 is crucial for proper tongue surface development and preventing skin-like changes.
10 citations
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October 2016 in “Monoclonal antibodies in immunodiagnosis and immunotherapy” Researchers created specific antibodies that detect a protein important in development and various conditions, and can be used for research and diagnosis.
30 citations
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May 2005 in “Pediatric dermatology” Some families have a genetic condition where they are born with irregular scalp defects.