6 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
September 2020 in “Journal of Health, Medicine and Nursing” A 10-year-old boy with abnormal genital development had surgery and tests to find the cause and plan treatment.
July 2025 in “Journal of Investigative Dermatology” Secreted inhibitors of Wnt and IGF signaling control hair and tooth development, creating species-specific patterns.
April 2018 in “Journal of Investigative Dermatology” Mutations in Far2 mice cause hair loss due to sebaceous gland issues.
10 citations
,
July 2001 in “PubMed” A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
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.
3 citations
,
January 2021 in “Veterinary dermatology” A litter of cats had a hair condition similar to a mouse mutation, leading to hair loss and abnormal hair and skin.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
3 citations
,
July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
May 2020 in “JOJ Dermatology & Cosmetics” A rare skin condition usually on the face was found on a man's heel.
111 citations
,
January 2007 in “Seminars in cell & developmental biology” Hair, teeth, and mammary glands develop similarly at first but use different genes later.
11 citations
,
November 2011 in “The Journal of Dermatology” Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
26 citations
,
June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
2 citations
,
August 2004 Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
59 citations
,
November 2002 in “Pediatric Dermatology” A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
3 citations
,
January 2017 in “Dermatology online journal” Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.
Goats can have various genetic skin diseases affecting hair, skin, and thyroid function.
9 citations
,
January 2011 in “American Journal of Dermatopathology” Pilomatrixoma involves abnormal hair keratin production and cell death, causing debris and cysts.
January 2022 in “Autopsy and Case Reports” A man had a non-cancerous neck tumor related to hair follicles removed with no return of the tumor.
25 citations
,
May 2004 in “Prenatal Diagnosis” Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
21 citations
,
January 2010 in “International journal of trichology” Trichoscopy can diagnose monilethrix, a genetic hair defect causing hair thinning and loss.
December 1972 in “Archives of Dermatology” The girl has an inflammatory type of scarring hair loss.
12 citations
,
January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
13 citations
,
February 2006 in “Clinical and Experimental Dermatology” A benign tumor developed at a girl's BCG vaccination site, not previously linked to the vaccine.
1 citations
,
April 2011 in “Clinical Kidney Journal” A benign skin tumor grew quickly in a dialysis patient and was surgically removed.
July 2022 in “Journal of Investigative Dermatology” A specific mutation in Kras causes abnormal tissue changes by making a cell signal continuously active, which disrupts normal cell coordination.
5 citations
,
March 2005 in “Pediatric dermatology” Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
25 citations
,
January 2004 in “The International Journal of Developmental Biology” Research on skin disorders in humans and mice has improved understanding of hair and skin development.
November 2024 in “NeoReviews” An extremely low-birthweight infant had a rare genetic skin disease and died despite treatment.
111 citations
,
May 2001 in “Human reproduction update” Insufficient androgen action in male fetuses can cause genital development issues due to genetic mutations or environmental chemicals.