A patient with patchy hair loss was successfully treated for Tumid Lupus Erythematosus after other treatments failed.
20 citations
,
June 2010 in “Dermatology Online Journal” Zinc supplements and weaning cured a breast-fed baby's zinc deficiency caused by a gene mutation.
5 citations
,
October 2012 in “Australian veterinary journal” Two Australian Poll Hereford calves had severe anaemia, abnormal red blood cells, and skin issues.
1 citations
,
March 2006 in “Journal of Cosmetic Dermatology” The woman's forehead lesion was caused by ointment use and resolved with treatment.
4 citations
,
January 2025 in “Clinical Cosmetic and Investigational Dermatology” Papular acantholytic dyskeratosis of the vulva is a rare, benign skin condition that can be managed conservatively.
October 2022 in “Medičnì perspektivi” Darier-White disease causes skin and nail issues, starts around age 20, worsens until 40-50, and has poor treatment options.
26 citations
,
August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
3 citations
,
April 2025 in “Science Advances” Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
80 citations
,
March 2004 in “Neuropediatrics” Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
25 citations
,
January 1983 in “Archives of dermatology” The conclusion is that Darier-White disease was accurately described by White but he missed the key feature of dyskeratotic cells which Darier identified.
January 1995 in “Seoul National University Open Repository (Seoul National University)” SSO helps in skin protection and keratinization.
January 1982 in “Clinical Cosmetic and Investigational Dermatology” Familial dyskeratotic comedones are a rare, inherited skin condition that is hard to treat but may improve slightly with topical retinoids and urea cream.
36 citations
,
January 2000 in “British journal of dermatology/British journal of dermatology, Supplement” A mother and daughter had severe skin, hair, and eye issues linked to IFAP.
2 citations
,
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.
10 citations
,
January 2011 in “Annals of Dermatology” A rare scalp tumor involving two hair follicles was successfully removed with surgery, with no recurrence after 7 months.
2 citations
,
September 2004 in “Experimental Dermatology” Keratinocyte adhesion problems can cause skin and hair disorders.
28 citations
,
April 1996 in “Cell biology international” Changes in keratin affect skin health and can lead to skin disorders like blistering diseases and psoriasis.
Spiny keratoderma is a rare skin condition with small spines on palms and soles, possibly linked to abnormal hair formation.
March 2009 in “Encyclopedia of Life Sciences” Mutations in keratin genes cause skin disorders, but new treatments show promise.
53 citations
,
September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
6 citations
,
January 2015 in “Indian Dermatology Online Journal” PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
32 citations
,
April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of keratin K2 causes skin problems and inflammation.
44 citations
,
January 2004 in “American journal of clinical dermatology” Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
17 citations
,
February 2015 in “Cell Death and Disease” Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.
28 citations
,
August 1992 in “Differentiation” A new pair of mouse keratins, 65 kD and 48 kD, are found in specific skin areas and are linked to a unique skin differentiation type.
69 citations
,
January 2015 in “Cell & tissue research/Cell and tissue research” Keratin mutations cause skin diseases and could lead to new treatments.
87 citations
,
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.
17 citations
,
July 1984 in “British journal of dermatology/British journal of dermatology, Supplement” The four patients have a unique type of ichthyosis affecting hair follicles.
23 citations
,
February 1993 in “Journal of Investigative Dermatology” April 1996 in “Journal of Dermatological Science”