4 citations
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July 2019 in “Clinical and experimental dermatology” Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)” Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.
December 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Hidradenitis suppurativa may be a type of autoinflammatory skin disease linked to gene mutations and immune system issues.
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.
March 2024 in “EMBO molecular medicine” Antiviral drugs, especially daclatasvir, may be a new treatment for a rare skin disease, improving survival and reducing symptoms in mice.
Tofacitinib effectively regrows hair in alopecia universalis triggered by a virus.
4 citations
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April 2019 in “Gynecological Endocrinology” Certain gene variations are found in people with polycystic ovary syndrome.
2 citations
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October 2018 in “Skin appendage disorders” A boy's hair that was frizzy and hard to comb returned to normal after 9 months, possibly due to genetic factors.
23 citations
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January 1985 in “Journal of Neuropathology & Experimental Neurology” Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.
27 citations
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February 2003 in “European Journal Of Oral Sciences” SVpgC2a cells show abnormal growth and keratin changes, modeling early cancer development.
13 citations
,
July 2016 in “Indian Journal of Dermatology” DPR can show different hair characteristics, as seen in two brothers with normal hair.
54 citations
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June 1990 in “Journal of The American Academy of Dermatology” HIV can cause various severe or unusual skin conditions that help indicate the presence and stage of the disease.
January 2002 in “Agritrop (Cirad)” The hr gene is linked to hair loss in Valle del Belice sheep.
9 citations
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October 2020 in “Journal of the European Academy of Dermatology and Venereology” Children with chilblain-like lesions may have a link to COVID-19.
26 citations
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October 2002 in “Journal of Investigative Dermatology” A specific gene mutation causes congenital hair loss.
March 2023 in “International Journal of Dermatology” COVID-19 can cause hair to become progressively kinked.
21 citations
,
December 2001 in “Endocrinology” Expressing the human vitamin D receptor in skin cells prevents hair loss in certain mice.
139 citations
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December 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” K6hf is a unique protein found only in a specific layer of hair follicles.
December 2023 in “Clinical, cosmetic and investigational dermatology” The study found that white hair in vitiligo has specific patterns and structures, which vary with the stage of the disease and may be similar to another hair condition.
125 citations
,
August 2003 in “Development” Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.
October 2017 in “The American Journal of Gastroenterology” Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.
January 2016 in “Indian Dermatology Online Journal” A rare skin condition called Eruptive Vellus Hair Cyst can cause itchy papules on the face.
June 2017 in “The Medical Journal of Australia” The man's rash, hair loss, and vision issues were due to syphilis, not CMV.
September 2022 in “IP Indian journal of clinical and experimental dermatology” An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
4 citations
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April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
99 citations
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May 2013 in “Familial cancer” People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
3 citations
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January 2012 in “Internal Medicine” A Rathke's cleft cyst caused hormonal imbalances and symptoms in a 68-year-old woman.
1 citations
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March 2023 in “Medicine” Satoyoshi syndrome can cause eye problems like uveitis and retinal vein issues.
March 2024 in “Cirugía y Cirujanos (English Edition)” Kidney transplant patients often have skin issues, mainly infections.
Diseased horse foot skin shows increased keratin expression, similar to wound healing in mammals.