18 citations
,
February 2010 in “Odontology” The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
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.
October 2025 in “Indian Journal of Paediatric Dermatology” Zinc treatment improved skin and hair issues in a boy with a zinc-related condition.
6 citations
,
November 2018 in “Case reports in nephrology and dialysis” Rituximab may be an effective treatment for Cronkhite-Canada syndrome with kidney disease.
May 2025 in “International Journal of Trichology” Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.
46 citations
,
November 1963 in “Journal of Histochemistry & Cytochemistry” Arginine converts to citrulline in hair follicles as proteins harden.
June 1987 in “Pediatric Neurology Briefs” Biotinidase deficiency can cause symptoms like sleepiness, hair loss, and seizures.
December 2016 in “Journal of Evolution of Medical and Dental Sciences” Chronic Acrodermatitis Enteropathica can persist into adulthood and requires careful zinc treatment.
69 citations
,
May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
3 citations
,
February 2010 in “Clinical kidney journal” Combining ciclosporin and simvastatin can cause severe kidney damage.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
3 citations
,
June 2002 in “PubMed” Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
3 citations
,
December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
28 citations
,
June 1998 in “Clinical Genetics” Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
April 2019 in “Journal of the Endocrine Society” A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
This rare genetic disorder causes permanent hair loss and skin bumps from birth.
6 citations
,
January 2003 in “Dermatology” Men with X-linked recessive ichthyosis often experience male-pattern baldness.
April 1974 in “Pediatric Research” The Naked (N) trait in mice is linked to lower glycine and tyrosine in hair proteins.
10 citations
,
November 1946 in “Journal of the American Medical Association” Severe vitamin deficiencies in children can cause significant hair problems.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The research identified unique metabolic activities in immune cells associated with hair loss in Alopecia Areata.
3 citations
,
January 2014 in “Indian dermatology online journal” A newborn girl has a rare skin condition with two ulcers on her buttock that are healing on their own.
August 2023 in “The American Journal of the Medical Sciences” Men with male pattern baldness have higher uric acid levels, which can decrease with finasteride treatment.
December 2019 in “Saintika Medika” A woman with lupus also developed a severe skin condition linked to a genetic factor.
October 2017 in “The American Journal of Gastroenterology” Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.
39 citations
,
August 1998 in “FEBS Letters” Two new enzymes, PAD-R11 and PAD-R4, were cloned and showed activity, with PAD-R11 resembling epidermal enzymes.
January 1998 in “The Nishinihon Journal of Dermatology” A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
87 citations
,
March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
8 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
2 citations
,
May 2021 in “Case reports in dermatological medicine” A 28-year-old man with type 1 diabetes had skin and hair issues due to zinc deficiency.