30 citations
,
January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
1 citations
,
August 2021 in “Canadian journal of neurological sciences” Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” 21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
9 citations
,
July 2017 in “Case Reports in Dermatology” Combination therapy helped patient with advanced Hidradenitis Suppurativa achieve remission.
7 citations
,
March 2012 in “European Journal of Pediatrics” A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
29 citations
,
January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
13 citations
,
September 1997 in “Archives of Dermatology” The boy likely has a fungal infection causing hair loss.
10 citations
,
March 1997 in “Pediatric Dermatology” A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
November 2024 in “JAAD Case Reports” A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
15 citations
,
November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
3 citations
,
April 2019 in “Journal of the Endocrine Society” Satoyoshi syndrome can occur without causing premature ovarian failure.
32 citations
,
January 1971 in “Annals of Internal Medicine” People with anhidrotic ectodermal dysplasia may get severe bronchitis if exposed to dust.
1 citations
,
April 2008 in “Experimental Dermatology” Hidradenitis suppurativa may mainly affect vellus hair follicles, not terminal ones.
9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
46 citations
,
December 1992 in “The Journal of Steroid Biochemistry and Molecular Biology” Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
13 citations
,
January 2012 in “International Journal of Trichology” Most hirsutism patients had idiopathic hirsutism or PCOS, with hormonal imbalances and signs like acne and irregular periods.
7 citations
,
January 2017 in “Neuromuscular Disorders” A rare autoimmune condition, Satoyoshi syndrome, can start in adults and improve with immunosuppressive treatment.
January 2011 in “Journal of Human Genetics” A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
April 2024 in “Research Square (Research Square)” A 27-year-old with APS-1 showed improvement in symptoms after treatment.
July 2024 in “Journal of Investigative Dermatology” Sex and race affect immune responses and treatment outcomes in Hidradenitis suppurativa.
April 2017 in “Journal of evolution of medical and dental sciences” Most women with excess hair growth had Polycystic Ovary Syndrome, and severity wasn't linked to hormone levels.
12 citations
,
November 1993 in “International Journal of Dermatology” The document explains that hirsutism, often caused by hormonal issues, can be managed with treatment to improve both physical appearance and mental health.
24 citations
,
March 1996 in “Postgraduate Medical Journal” Most women with hirsutism in the UAE have polycystic ovary syndrome (PCOS).
17 citations
,
April 1997 in “Archives of dermatology” The document describes a treatment for excessive hair growth in a teenage girl using medication and birth control, but does not report the results.
1 citations
,
December 1997 in “Journal of The European Academy of Dermatology and Venereology” All women with significant unwanted hair growth have hormonal imbalances, often from polycystic ovary syndrome.
January 2023 in “Archives of Disease in Childhood Education & Practice” Hirsutism in teens is often due to polycystic ovarian syndrome and needs careful assessment and support.
6 citations
,
February 2023 in “Lara D. Veeken” Satoyoshi syndrome is likely an autoimmune disease.
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.
144 citations
,
May 1990 in “Journal of the American Academy of Dermatology”