71 citations
,
January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
51 citations
,
August 2013 in “The Journal of experimental medicine/The journal of experimental medicine” Loss of a specific protein in skin cells causes symptoms similar to psoriasis.
21 citations
,
March 2006 in “Seminars in Cutaneous Medicine and Surgery” Most hair loss disorders can be accurately diagnosed and treated in an outpatient setting.
December 2025 in “Frontiers in Medicine” ARWH is a rare hair disorder with no cure, but potential treatments include minoxidil and other therapies.
January 2017 in “IMC Journal of Medical Science” A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
44 citations
,
April 2012 in “American Journal of Clinical Dermatology” Scarring alopecias are complex hair loss disorders that require early treatment to prevent permanent hair loss.
13 citations
,
December 2010 in “Nature Reviews Endocrinology” A young man with an eating disorder had a life-threatening adrenal crisis due to an autoimmune condition, highlighting the need for better education on managing hormone treatments.
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.
1 citations
,
August 2019 in “Pediatric dermatology” Topical minoxidil helped an 8-year-old boy with a genetic hair disorder grow hair.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
9 citations
,
December 2020 in “International Journal of Medical Sciences” iPSCs help understand and treat neurodevelopmental disorders.
155 citations
,
August 2003 in “Journal Of Experimental Zoology Part B: Molecular And Developmental Evolution” Understanding hair growth involves complex interactions between molecules and could help treat hair disorders.
62 citations
,
April 2009 in “British Journal of Dermatology” Epidermal stem cells could lead to new treatments for skin and hair disorders.
11 citations
,
September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
3 citations
,
April 2015 in “American journal of biomedical sciences” Androgens play a key role in hair growth and disorders like baldness and excessive hairiness.
1 citations
,
July 2019 in “Case reports in dermatology” A Thai boy was diagnosed with a rare hair disorder causing hair thinning and shedding.
May 2026 in “Frontiers in Cell and Developmental Biology” Hair follicle organoids can help study hair biology and disorders but need improvements for wider use.
January 2019 in “Przegląd Dermatologiczny” Patients with one autoimmune disease should be checked for other autoimmune disorders.
December 2018 in “IntechOpen eBooks” Neurohormones help control skin health and could treat skin disorders.
November 2013 in “John Wiley & Sons, Ltd eBooks” The document concludes that accurate diagnosis of male and female gonadal disorders is crucial for effective treatment and better patient outcomes.
8 citations
,
May 2017 in “IUBMB life” Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
2 citations
,
December 2020 in “Endocrinology, diabetes & metabolism case reports” A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
1 citations
,
October 2014 in “Paediatrics and Child Health” The document concludes that proper diagnosis and management of hair loss in children require a detailed examination and understanding of various hair disorders.
4 citations
,
December 2020 in “Dermatologic Therapy” Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
119 citations
,
November 2014 in “Trends in Cell Biology” Fibroblast growth factor receptor signaling controls cell development and repair, and its malfunction can cause disorders and cancer, but it also offers potential for targeted therapies.
66 citations
,
March 2019 in “Cellular and Molecular Life Sciences” Melanocyte development from neural crest cells is complex and influenced by many factors, and better understanding could help treat skin disorders.
41 citations
,
December 2018 in “Experimental Dermatology” Understanding how melanocyte stem cells work could lead to new treatments for hair graying and skin pigmentation disorders.
18 citations
,
January 2008 in “Journal of The American Academy of Dermatology” Certain proteins and their receptors are more active during the growth phase of human hair and could be targeted to treat hair disorders.
23 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.
9 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” The document discusses various eye conditions and their treatments, including a rare eye cancer in a baby, vision loss from a cancer drug, cataracts from a baldness treatment, a rare skin disorder, and a specific type of eye disease diagnosed with a special imaging technique.