19 citations
,
April 1995 in “Clinical Genetics” Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
15 citations
,
July 1975 in “British journal of dermatology/British journal of dermatology, Supplement” Graham-Little syndrome causes scarring hair loss and skin bumps.
January 2025 in “Indian Journal of Dermatopathology and Diagnostic Dermatology” Dermoscopy helps diagnose rare GLPLS in males.
August 2021 in “Indian dermatology online journal” A young boy with a rare skin and nail condition improved significantly with simple topical treatments.
2 citations
,
March 2012 in “Hiroshima University Acedemic Information Repository (Hiroshima University)” Kainar syndrome symptoms may be linked to nuclear test exposure effects.
17 citations
,
August 2015 in “PLoS ONE” Iron contributes to skin fibrosis in nephrogenic systemic fibrosis.
13 citations
,
July 2016 in “Indian Journal of Dermatology” DPR can show different hair characteristics, as seen in two brothers with normal hair.
6 citations
,
November 2018 in “Histochemistry and Cell Biology” Mongolian gerbils heal wounds differently than mice, with unique protein levels and gene expression that affect skin repair.
8 citations
,
December 2015 in “JAMA ophthalmology” A young man had vision loss, hair loss, and other symptoms, but tests showed mostly normal results except for slightly high protein in spinal fluid.
February 2026 in “Clinical Cosmetic and Investigational Dermatology” A 7-year-old girl experienced temporary hair loss due to radiation, with signs of possible hair regrowth.
3 citations
,
January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
March 2025 in “European Journal of Medical Genetics” Tofacitinib helped improve symptoms and hair growth in a patient with Aicardi-Goutières syndrome.
44 citations
,
April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” FGF13 gene changes cause excessive hair growth in a rare condition.
13 citations
,
January 2012 in “International journal of trichology” The study found that hair fragility in Pili annulati may be caused by cavities and damage within the hair shafts.
2 citations
,
September 2019 in “Neurology Neuroimmunology & Neuroinflammation” IVIg treatment improved symptoms but caused permanent dark hair loss.
1 citations
,
May 2021 in “Clinical Nuclear Medicine” Platelet-rich plasma therapy can increase FDG uptake in the scalp.
6 citations
,
January 2018 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” An 8-year-old girl with Rapunzel syndrome had a hairball removed from her stomach and intestines and recovered well after surgery.
July 2011 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” People with early onset baldness (AGA) have higher blood sugar levels and lower sex hormone-binding globulin (SHBG) levels, suggesting SHBG could predict high blood sugar in these individuals.
4 citations
,
January 2004 in “Biological and Pharmaceutical Bulletin” AgK114 protein helps in hamster skin injury recovery.
2 citations
,
March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
20 citations
,
June 2010 in “Dermatology Online Journal” Zinc supplements and weaning cured a breast-fed baby's zinc deficiency caused by a gene mutation.
25 citations
,
May 2013 in “Journal of mammary gland biology and neoplasia” Hedgehog signaling is crucial for mammary gland development over hair follicles.
14 citations
,
January 2011 in “The International Journal of Developmental Biology” Retinoic acid changes skin cells to mucosal cells with goblet cells, needing TG2/Gh, Gbx1, and TGF-beta.
2 citations
,
October 2024 in “Indian Journal of Orthopaedics” 3 citations
,
July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
January 2020 in “Medpulse International Journal of General Medicine” Trichoscopy helps diagnose and monitor hair loss, showing different signs at various stages of hair thinning.
2 citations
,
November 1973 in “Archives of Dermatology” Hair loss might be an early sign of Hodgkin disease.
1 citations
,
September 2022 in “Journal of The American Academy of Dermatology” Baricitinib helps grow eyebrows and eyelashes in severe alopecia areata patients.
1 citations
,
January 2023 in “Life sciences” GABA contributes to stress-related hair loss, and ginkgolide A may help treat it.
6 citations
,
February 1989 in “PubMed” Hair glycation can indicate long-term blood sugar levels and diabetic nerve issues.