September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
36 citations
,
November 2000 in “Journal of the American Academy of Dermatology” A woman with dermatomyositis showed rare skin symptoms, was treated successfully, and her case suggests checking for cancer in similar patients.
10 citations
,
July 2001 in “PubMed” A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” The case suggests that dissecting cellulitis of the scalp can occur in a White child and should be considered when diagnosing pediatric scarring alopecia.
21 citations
,
January 2018 in “PLoS Genetics” Certain genetic variants in keratins increase the risk of tooth decay.
39 citations
,
July 2000 in “British Journal of Dermatology” Identical twins both had a rare hair loss condition, suggesting it might be genetic.
June 2018 in “Journal of the American Veterinary Medical Association” Three related Persian cats have a rare, likely hereditary skin condition causing hair loss and poor coat quality, with limited treatment options.
11 citations
,
January 2015 in “JOURNAL OF HEALTH SCIENCE” A 12-year-old boy's rare skin condition improved with topical treatments and may resolve by puberty.
July 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” August 2025 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Patients with nevus comedonicus suppurativa should be monitored for diabetes.
5 citations
,
October 2012 in “Veterinary Pathology” A Doberman Pinscher had a rare form of autoimmune disease causing hair loss and other severe symptoms.
78 citations
,
May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
April 2018 in “Journal of Investigative Dermatology” Mutations in Far2 mice cause hair loss due to sebaceous gland issues.
152 citations
,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
88 citations
,
March 2004 in “Journal of Investigative Dermatology”
November 2025 in “International Journal of Clinical Obstetrics and Gynaecology” PCOS is likely inherited in families, increasing risk for first-degree relatives.
20 citations
,
January 1997 in “Dermatology” The patient with EEC syndrome had scarring alopecia due to deep folliculitis, possibly linked to abnormal hair structure.
11 citations
,
January 2010 in “Current problems in dermatology” Ichthyoses are genetic skin disorders that affect the skin's barrier function.
June 2018 in “International Journal of Dermatology” 26 citations
,
October 1998 in “Experimental Dermatology” A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
41 citations
,
July 2016 in “Journal of Investigative Dermatology” Dysplastic nevi have unique gene expressions, making them distinct from common melanocytic nevi.
45 citations
,
March 1997 in “Journal of Investigative Dermatology” May 2022 in “Journal of the Egyptian Society of Parasitology” Demodex folliculorum mites may contribute to severe acne, especially in adolescents.
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
June 2023 in “British Journal of Dermatology” Facial lichen planopilaris may be triggered by shaving and mustard oil, and early detection is crucial for better treatment outcomes.
August 2024 in “Postgraduate Medical Journal” A rare skin reaction from cancer treatment was successfully managed with topical treatments and antihistamines.
5 citations
,
August 1925 in “Archives of dermatology” An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
4 citations
,
August 2013 in “Chinese Medical Journal” A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.