13 citations
,
July 2004 in “Pediatric dermatology” A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
April 2018 in “Nasza Dermatologia Online” People with Down's syndrome are more likely to have syringomas.
36 citations
,
March 2014 in “Cell death and differentiation” Disrupting β-catenin signaling in certain cells causes anorectal malformations.
August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
July 2020 in “Nepalese journal of ophthalmology” A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.
13 citations
,
July 2014 in “The Journal of Dermatology” Dermoscopy helped diagnose discoid lupus erythematosus in two patients without needing skin biopsies.
3 citations
,
January 2023 in “Science advances” The enzymes Tet2 and Tet3 are important for skin cell development and hair growth.
January 2025 in “Journal of College of Physicians And Surgeons Pakistan” Minimally invasive glaucoma surgery can effectively manage glaucoma in GAPO syndrome when other treatments fail.
39 citations
,
March 1997 in “The Lancet” Acquired perforating dermatosis often affects skin in people with kidney issues and diabetes.
3 citations
,
February 2001 in “British journal of ophthalmology” An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.
22 citations
,
January 1999 in “Dermatology” The condition might be caused by genetic changes after birth.
30 citations
,
June 2021 in “British Journal of Dermatology” Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
4 citations
,
December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
January 2026 in “International Journal of Dermatology” Treatment improved scalp conditions and hair loss with no recurrence after 1 year.
11 citations
,
July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
144 citations
,
May 1990 in “Journal of the American Academy of Dermatology”
65 citations
,
September 1998 in “Eye” Orbital decompression surgery for Graves' orbitopathy caused double vision in 19% of patients, with similar rates for two surgical methods.
245 citations
,
January 1998 in “Genes & Development” Hoxc13 gene is essential for hair, nail, and papilla development.
5 citations
,
August 2014 in “Archivos Argentinos de Pediatria” A girl with Turner syndrome had psoriasis, alopecia areata, and trachyonychia.
13 citations
,
January 2009 in “The Open Dermatology Journal” Oral pigmentation can be a sign of Addison's disease.
7 citations
,
July 2011 in “Survey of Ophthalmology” The document concludes that periocular hair disorders have various causes and treatments, and proper evaluation by specialists is important for management and prognosis.
10 citations
,
March 2016 in “The Journal of Obstetrics and Gynecology of India” The article suggests renaming Polycystic Ovarian Syndrome (PCOS) to "Hyperandrogenic Persistent Ovulatory Dysfunction Syndrome" (HA-PODS) for accuracy and consistency, but no final decision was made.
5 citations
,
May 2014 in “Clinical and Experimental Dermatology” Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
1 citations
,
June 2022 in “Tidsskrift for Den norske legeforening” A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
30 citations
,
February 2015 in “Anais Brasileiros de Dermatologia” Trichoscopy is useful for diagnosing Netherton syndrome in children with skin issues.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
72 citations
,
November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
18 citations
,
September 1994 in “Clinical and Experimental Dermatology” Localized trichorrhexis nodosa is a hair condition where hair becomes fragile and breaks easily due to damage.
6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
January 2021 in “Dermatology online journal” One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.