9 citations
,
January 2007 in “Gynecological Endocrinology” A woman was the first known case to have both polycystic ovary syndrome and autoimmune polyglandular syndrome type 2, suggesting a need to check for both conditions in similar patients.
16 citations
,
January 2005 in “Pediatric Dermatology” A 10-year-old girl with Fox Fordyce disease improved with treatment, suggesting the disease can occur before puberty and might be underdiagnosed in young girls.
26 citations
,
January 1993 in “Dermatology” A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
1 citations
,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
October 2022 in “Miscellaneous” A rare, non-cancerous ovarian tumor was successfully treated with surgery, improving the patient's symptoms.
Tricholemmoma is linked to Cowden syndrome and can be benign or malignant.
6 citations
,
August 2012 in “The Journal of Pediatrics” A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
1 citations
,
January 2015 in “Case reports in endocrinology” Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.
June 2014 in “The Journal of Dermatology” A patient with a rare chromosome condition also had a rare type of hair loss.
May 2025 in “Clinical Medicine Insights Case Reports” Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.
3 citations
,
January 2008 in “Endocrine journal” A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
10 citations
,
May 2010 in “Journal of The American Academy of Dermatology” A 38-year-old African American woman has a rare condition that prevents her from growing long hair.
23 citations
,
January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
January 2018 in “Springer eBooks” Congenital triangular alopecia is a harmless, non-spreading hair loss condition often seen in young children.
January 2011 in “Yearbook of Dermatology and Dermatologic Surgery” 2 citations
,
October 1931 in “Archives of Dermatology and Syphilology” A rare scalp infection in a child developed into a kerion with additional skin symptoms.
5 citations
,
January 2009 in “International Journal of Trichology” Two siblings had a rare hair condition with banded hair, which doesn't need treatment.
October 2017 in “The American Journal of Gastroenterology” Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.
175 citations
,
December 1980 in “Archives of Dermatology” Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
25 citations
,
September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
8 citations
,
January 2006 in “Dermatology Online Journal” The girl's skin condition is benign but challenging to treat due to its size and location.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
August 2024 in “Archives of Dermatological Research” Androgenetic alopecia may be linked to metabolic syndrome.
14 citations
,
September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
November 2024 in “Scientific Reports” Chemotherapy for male germ cell tumors often leads to hypogonadism and related symptoms.
July 2025 in “Dermatology Practical & Conceptual” Hair changes and a high occipital hairline may help diagnose Trichorhinophalangeal Syndrome.
August 2017 in “Journal of pediatric surgery case reports” A toddler with a rare adrenal gland tumor causing male-like physical changes was successfully treated with surgery.
61 citations
,
March 1966 in “Archives of Dermatology” Nevoid basal cell carcinomas start in the skin and hair follicles.
63 citations
,
January 1999 in “The Journal of Clinical Endocrinology & Metabolism” Polycystic ovaries and early male baldness are inherited traits.
23 citations
,
January 1964 in “Archives of Dermatology” Treatment with vitamin A did not improve the child's skin condition.