8 citations
,
December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
Acitretin improved monilethrix symptoms temporarily, but they returned after stopping treatment.
July 2025 in “Clinical Dermatology Review” Azathioprine can cause unexpected hair loss and severe bone marrow issues, so careful monitoring is needed.
A boy on a ketogenic diet and anti-epileptic drugs developed skin issues due to stopping vitamin supplements, which improved with proper supplementation.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
12 citations
,
February 1986 in “PubMed” Injecting newborn mice with a niacin blocker caused skin, gut, and brain damage similar to human pellagra.
12 citations
,
November 1987 in “Pediatric dermatology” Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
December 2016 in “Journal of Evolution of Medical and Dental Sciences” Chronic Acrodermatitis Enteropathica can persist into adulthood and requires careful zinc treatment.
September 2023 in “British Journal of Dermatology” Some cases of short anagen hair syndrome are linked to specific genetic variations that are also connected to male pattern baldness.
16 citations
,
April 1978 in “Genetics Research” Mice with the ab gene have abnormal sebaceous gland development, affecting sebum production.
6 citations
,
November 2018 in “Case reports in nephrology and dialysis” Rituximab may be an effective treatment for Cronkhite-Canada syndrome with kidney disease.
October 2023 in “Benha Journal of Applied Sciences” Men with male pattern baldness have lower levels of the antioxidant PON1.
2 citations
,
January 2021 in “Case reports in endocrinology” The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
21 citations
,
December 2014 in “Clinics in dermatology” Squaric acid dibutylester effectively treats alopecia areata.
March 2023 in “Authorea (Authorea)” Early diagnosis and treatment of systemic-onset juvenile idiopathic arthritis are crucial for improvement.
May 2025 in “Dermatology Reports” A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
3 citations
,
June 2025 in “Frontiers in Nutrition” Zinc effectively treats most children with acrodermatitis enteropathica, but underlying metabolic issues may require additional management.
1 citations
,
June 2025 in “Journal of Allergy and Clinical Immunology Global” A young boy with Netherton syndrome improved significantly using IVIG, dupilumab, and dietary changes.
13 citations
,
May 1996 in “Archives of Disease in Childhood” Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
April 2021 in “MEDICINUS” Acrodermatitis enteropathica can occur even with normal zinc levels, and zinc supplements can improve symptoms.
10 citations
,
October 2014 in “Journal of Ovarian Research” The IRS-2 Asp/Asp genotype may increase the risk of PCOS in Chinese women, especially if they are not obese.
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.
19 citations
,
December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
42 citations
,
August 1987 in “Archives of Dermatology” Squaric acid dibutylester led to complete hair regrowth in 28.5% of patients with alopecia areata.
Alpha-ketoglutaric acid may help treat aging and age-related diseases.
1 citations
,
July 1991 in “PubMed” MRI can show unusual brain changes in adrenomyeloneuropathy.
11 citations
,
January 2013 in “Revista Brasileira De Terapia Intensiva” Eating pacu-manteiga fish can cause Haff disease, leading to severe muscle damage.
1 citations
,
October 2024 in “JCEM Case Reports” 5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.