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.
1 citations
,
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.
3 citations
,
March 2017 in “International journal of women’s dermatology” Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
4 citations
,
January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Not having enough cystatin M/E protein causes less hair growth and dry skin.
1 citations
,
February 2013 in “Clinical pediatrics” The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
5 citations
,
August 2014 in “Archivos Argentinos de Pediatria” A girl with Turner syndrome had psoriasis, alopecia areata, and trachyonychia.
10 citations
,
May 2017 in “Wound Repair and Regeneration” Overexpression of ALK2 in hair follicles disrupts skin development and slows wound healing.
20 citations
,
October 2005 in “Archives of Dermatological Research” 16 citations
,
January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science” A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
2 citations
,
January 2014 in “Indian dermatology online journal” A person was born with both a rare hairless condition and a type of birthmark, which is an uncommon combination.
November 2025 in “Journal of Investigative Dermatology” Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
19 citations
,
April 2014 in “Veterinary Dermatology” Demodicosis should be considered in cats with facial skin issues exposed to inhalant glucocorticoids.
August 2019 in “International journal of contemporary pediatrics” A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.
1 citations
,
January 2024 in “Curēus” Upadacitinib significantly improved a man's severe scalp condition when other treatments failed.
April 2018 in “Journal of Investigative Dermatology” DNMT3A is crucial for healthy skin and hair growth.
24 citations
,
June 1999 in “The Pediatric Infectious Disease Journal” A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.
May 2018 in “European Journal of Dermatology” The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.
33 citations
,
October 2014 in “Veterinary Dermatology” Epidermolysis bullosa is a genetic disease causing fragile skin and blisters in both animals and humans.
April 2015 in “Dentistry 3000” Premature hair graying in the face may be influenced by genetics and environment.
August 2004 in “Journal of the American College of Surgeons” Several genes, including Hox-7A, Stra6, and Lim-1, are involved in normal palate formation.
1 citations
,
May 2023 in “Frontiers in endocrinology” A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
5 citations
,
December 1964 in “Australasian journal of dermatology” Congenital atrichia is a rare condition where children are born without hair, and treatment is often ineffective.
3 citations
,
March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
8 citations
,
September 2016 in “The American Journal of Dermatopathology” Enlarged sweat gland ducts may indicate scarring hair loss.
An infant with a zinc deficiency skin disorder improved with zinc treatment.
2 citations
,
June 2003 in “International Journal of Acarology” Researchers found a new mite species causing severe hair loss and skin problems in yellow-bellied marmots.
January 2013 in “International Journal of Trichology” Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
January 2011 in “대한피부과학회지” A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
July 2023 in “Journal of medical and health studies” A 3-year-old with vitamin D-resistant rickets and severe hair loss died despite treatment, highlighting the need for improved management of the condition.