1 citations
,
January 2018 in “Indian dermatology online journal” Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
4 citations
,
May 2020 in “Cureus” A new genetic mutation causing Werner's syndrome was found in an Indian man.
6 citations
,
August 1993 in “Archives of Dermatology” A woman's hair changed to a dry, tangled texture that's hard to comb after treatment with spironolactone, suggesting the medication might cause such hair changes.
6 citations
,
May 2012 in “Pediatric Dermatology” Satoyoshi syndrome can cause hair loss and other serious health issues, and is hard to diagnose.
June 2018 in “Chinese Journal of Dermatology” Connective tissue nevi have distinct features, and reflectance confocal microscopy is useful for early diagnosis.
November 2023 in “Global Medical Genetics” Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
13 citations
,
June 2012 in “European journal of medical genetics” Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
December 2025 in “Clinical Case Reports” Netherton syndrome causes skin and hair issues, confirmed by "bamboo hair" under dermoscopy, with no cure but managed with topical treatments.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
2 citations
,
June 2019 in “The Journal of Dermatology” Two cases showed skin abnormalities without bone or neural defects.
1 citations
,
December 2013 in “BMJ case reports” A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.
1 citations
,
October 2023 in “BMC oral health” Two patients treated with TAC for mouth fibrosis improved but developed Cushing's Syndrome symptoms.
September 2025 in “Indian Journal of Child Health” Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
8 citations
,
August 2019 in “JAAD case reports” Chronic cutaneous lupus erythematosus causes scarring, hair loss, and skin discoloration, especially on sun-exposed areas.
15 citations
,
April 2016 in “Medicine” SLE patients with Evans syndrome often show blood issues and need careful monitoring and treatment.
September 2024 in “International Journal of Contemporary Pediatrics” A multidisciplinary approach is crucial for treating complex cases of Rapunzel syndrome in children.
14 citations
,
July 2009 in “European Journal of Gastroenterology & Hepatology” Rapunzel syndrome is more common in Asian countries and requires early diagnosis, especially in Asian girls.
April 2016 in “Journal of The American Academy of Dermatology” Women with PCOS often have hirsutism and skin changes, which indicate a need for metabolic health checks.
April 2019 in “Journal of the Endocrine Society” A woman with Cushing's syndrome improved after surgery to remove an adrenal tumor.
9 citations
,
December 2012 in “Indian Journal of Dermatology Venereology and Leprology” Two sisters had rare, widespread cysts and complete hair loss, suggesting a genetic link.
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.
May 2025 in “International Journal of Trichology” Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.
1 citations
,
January 2014 SAHA syndrome links oily skin, acne, excess hair, and hair loss in women, similar to PCOS.
7 citations
,
January 2015 in “Case reports in endocrinology” The document concludes that HAIR-AN syndrome should be considered when a patient shows severe hyperandrogenism and insulin resistance after excluding tumors.
62 citations
,
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.
July 2012 in “American Journal of Clinical Pathology” Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
45 citations
,
January 2006 in “Endocrine journal” To diagnose Polycystic Ovarian Syndrome, two out of three signs—irregular periods, high male hormone levels, or cysts on the ovaries—are needed.
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.
60 citations
,
June 1997 in “Baillière's clinical obstetrics and gynaecology” PCOS is often caused by hormonal imbalances that can lead to various health issues and may indicate a risk for future metabolic and cardiovascular problems.