20 citations
,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
May 2017 in “Journal of The American Academy of Dermatology” A woman with a skin disorder was found to have hepatitis C, which may be linked, and was safely treated with methotrexate.
19 citations
,
October 1996 in “International Journal of Dermatology” Pseudopelade is a rare inherited hair loss condition with a genetic cause.
20 citations
,
August 1981 in “Developmental Medicine & Child Neurology” 13 citations
,
June 1981 in “Developmental Medicine & Child Neurology”
December 2023 in “Clinical Cosmetic and Investigational Dermatology” An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
25 citations
,
April 2008 in “Clinical and experimental dermatology” EFFC might be common but underreported.
9 citations
,
November 1991 in “American Journal of Kidney Diseases”
47 citations
,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
July 2020 in “Nepalese journal of ophthalmology” A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.
54 citations
,
February 2012 in “Pediatrics in Review” Pediatric systemic lupus erythematosus is a severe autoimmune disease in children requiring early diagnosis and comprehensive management.
12 citations
,
November 1987 in “Pediatric dermatology” Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
1 citations
,
January 2017 in “International Journal of Trichology” A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
August 2021 in “Indian dermatology online journal” A young boy with a rare skin and nail condition improved significantly with simple topical treatments.
June 2007 in “Annales de Dermatologie et de Vénéréologie” July 2004 in “Transplantation” Iron deficiency is common in kidney transplant patients, and while iron treatment helps, it can cause high red blood cell levels.
June 2022 in “Indian journal of clinical and experimental opthalmology” The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
4 citations
,
January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
15 citations
,
April 2007 in “Journal of child neurology” An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
March 2024 in “Residência Pediátrica” An infant developed excessive hair growth after a bone marrow transplant and cyclosporine treatment.
4 citations
,
April 1978 in “PubMed” Netherton syndrome in a boy caused skin and hair issues, and treatment didn't work.
5 citations
,
September 1986 in “Pediatric Dermatology” A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
21 citations
,
June 1991 in “Journal of Inherited Metabolic Disease” Selenium deficiency caused symptoms in a child, which improved with selenium supplements.
3 citations
,
May 2018 in “European Journal of Dermatology” Photodynamic therapy may not work for erythroplasia of Queyrat and could lead to invasive squamous cell carcinoma.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
13 citations
,
July 2004 in “Pediatric dermatology” A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
34 citations
,
September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
15 citations
,
May 2014 in “Journal of dermatology” Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
January 2014 in “International Journal of Clinical Medicine” Premature aging increases the risk of immune problems and autoimmune diseases.