1 citations
,
April 2023 in “Frontiers in Genetics” The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
September 2018 in “Journal of the American Academy of Dermatology” Elderly patients with CCCA were all African American with low vitamin D, but no iron or zinc deficiencies, and no hormonal imbalances compared to younger patients.
62 citations
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March 2011 in “European journal of endocrinology” Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
40 citations
,
December 2012 in “PLoS ONE” Removing Ctip2 in skin cells causes skin inflammation similar to atopic dermatitis.
2 citations
,
March 2024 in “Pediatric Dermatology” Two siblings have a rare hair condition caused by a new genetic variant.
2 citations
,
December 2023 in “Journal of clinical immunology” Ruxolitinib significantly improves multiple autoimmune conditions in APS-1 patients.
6 citations
,
February 2021 in “Frontiers in Neurology” Cyclosporine-A can cause serious blood clots in the brain, so patients need careful monitoring.
1 citations
,
July 2014 in “Our Dermatology Online” The patient with both scarring and non-scarring hair loss showed complex immune reactions and improved with steroid treatment.
1 citations
,
January 2013 in “Indian journal of dermatology, venereology, and leprology” A girl inherited excessive body hair from her mother and grandmother.
72 citations
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July 2008 in “Dermatologic Therapy” CCCA is a scarring hair loss condition mainly in African descent women, possibly caused by genetics and hairstyling, treated with gentle hair care and medications.
September 2025 in “JCEM Case Reports” Consider rare forms of CAH for accurate diagnosis and treatment.
September 2019 in “Journal of Investigative Dermatology” Innate lymphoid cells type 1 may contribute to alopecia areata.
100 citations
,
May 2011 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
56 citations
,
December 2011 in “Steroids” The document suggests treating individuals with nonclassic congenital adrenal hyperplasia who show symptoms, especially those related to excess male hormones.
14 citations
,
March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
22 citations
,
September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
1 citations
,
September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
1 citations
,
August 2012 in “Journal der Deutschen Dermatologischen Gesellschaft” A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
157 citations
,
May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
28 citations
,
January 1985 in “Journal of the American Academy of Dermatology” A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.
41 citations
,
May 2020 in “Frontiers in immunology” Hidradenitis suppurativa might be a type of autoinflammatory skin disease.
May 2026 in “Journal of International Medical Research” Atrichia with papular lesions causes irreversible hair loss from infancy and is often misdiagnosed.
1 citations
,
September 2011 in “Journal of Dermatology” A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
August 2024 in “JAAD Case Reports” Upadacitinib successfully regrew hair in a child with alopecia universalis and specific genetic mutations.
5 citations
,
April 2011 in “The Lancet” Untreated congenital adrenal hyperplasia can lead to complications like stroke and needs glucocorticoid treatment.
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
May 2024 in “Frontiers in medicine” A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
1 citations
,
September 2023 in “Acta dermato-venereologica” Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.
18 citations
,
November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.