5 citations
,
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.
84 citations
,
June 1970 in “Journal of Investigative Dermatology” November 2023 in “International Journal of Trichology” A rare form of lupus caused hair loss and skin bumps, diagnosed through biopsy, improved partially with treatment.
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
November 2023 in “Skin Appendage Disorders” A rare scalp condition can occur due to leukemia affecting the skin.
6 citations
,
August 2012 in “The Journal of Pediatrics” A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
June 2023 in “JAAD Case Reports” A man had a rare skin cancer that looked like a bald spot.
50 citations
,
March 1992 in “PubMed” Malnutrition causes skin changes due to nutrient deficiencies.
January 2007 in “Bristol Research (University of Bristol)” Epidermolysis bullosa in UK calves is not caused by mutations in keratin genes.
1 citations
,
October 2021 in “Australasian Journal of Dermatology” The document's conclusion cannot be provided because the document is not available or cannot be understood.
3 citations
,
August 2017 in “Clinical case reports” A rare skin condition causes red and dark patches on the face and limbs.
January 2026 in “Cosmoderma” A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
September 2016 in “Journal of The American Academy of Dermatology” The girl has a genetic hair condition causing thin hair since childhood.
55 citations
,
December 1987 in “Archives of Dermatology” Two enzyme defects in biotin metabolism cause severe skin, hair, and metabolic issues.
48 citations
,
April 2008 in “Human Molecular Genetics” Progerin affects cell shape but not hair or skin in mice.
16 citations
,
June 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.
15 citations
,
May 2014 in “Journal of Biological Chemistry” A chimeric keratin partially improved skin structure in mice lacking keratin 5, but didn't fully restore normal skin.
13 citations
,
September 1997 in “Archives of Dermatology” The boy likely has a fungal infection causing hair loss.
11 citations
,
December 2015 in “Indian journal of dermatology, venereology, and leprology” Dermoscopy quickly and accurately diagnosed a rare hair disorder in a 12-year-old girl.
September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
January 2020 in “JAAD case reports” Systemic mastocytosis may cause a type of hair loss called cicatricial alopecia.
5 citations
,
October 2015 in “The American journal of pathology” Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.
20 citations
,
September 2018 in “Journal of cutaneous pathology” Different skin diseases show unique patterns of skin cell separation, cell death, and granular layer changes.
20 citations
,
November 2003 in “American Journal Of Pathology” Fibroblasts from healthy donors can prevent changes seen in recessive epidermolysis bullosa simplex.
2 citations
,
February 2021 in “Indian Dermatology Online Journal” Imatinib can cause hair loss due to lichen planopilaris.
23 citations
,
July 2016 in “JAMA Ophthalmology” CDH3-related disease causes worsening eye and hair issues.
January 2017 in “IMC Journal of Medical Science” A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
3 citations
,
December 1991 in “PubMed” The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
64 citations
,
August 1977 in “PubMed” Skin changes help detect graft-versus-host reaction early after bone marrow transplants.
1 citations
,
January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.