June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Robertsonian translocation can cause recurrent miscarriages.
April 2023 in “Journal of Investigative Dermatology” Human TMEM2 does not break down hyaluronan but helps control its metabolism.
29 citations
,
June 2015 in “Kidney International” Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
October 2023 in “Clinical case reports” A woman's male-pattern facial hair growth was caused by a rare malignant ovarian tumor that was difficult to diagnose and treat.
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.
45 citations
,
March 1998 in “Journal of the American Academy of Dermatology” Majocchi's granuloma can occur in kidney transplant patients on tacrolimus and can be treated with antifungal medication.
November 1997 in “Open Archive (Karolinska Institutet)” PTCH gene mutations contribute to basal cell carcinoma development.
A thorough diagnostic process and teamwork are crucial for managing complex hyperandrogenism in postmenopausal women.
A new genetic mutation was found causing hair and eye issues in a boy.
4 citations
,
December 2018 in “Case reports in endocrinology” A 63-year-old woman's male-like symptoms were caused by a rare testosterone-producing ovarian tumor, treated by removing her ovaries and fallopian tubes.
November 2009 in “Reactions Weekly” Two women lost hair after mesotherapy for hair loss, with one having permanent and the other temporary hair loss.
September 2024 in “Journal of the American Academy of Dermatology”
5 citations
,
April 2024 in “BMC Neurology” Clinicians should recognize taste disorders and hair loss as important symptoms in myasthenia gravis patients.
4 citations
,
December 2012 in “PubMed”
14 citations
,
January 2008 in “Gynecological Endocrinology” High levels of male hormones in women without tumors are linked to metabolic problems and can be treated with metformin.
January 2024 in “Wiadomości Lekarskie” High PMP 22 levels in type 2 diabetes patients may cause hearing loss.
November 2022 in “American Journal of Clinical Pathology” TURP specimens should be checked for various tumors, not just common prostate issues.
28 citations
,
November 2013 in “Cell and Tissue Research” July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
17 citations
,
May 1987 in “Clinical and Experimental Dermatology” A patient with Sézary syndrome showed improvement after treatment and the study suggested follicular mucinosis might indicate future lymphoma risk.
21 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
January 2022 in “Autopsy and Case Reports” A man had a non-cancerous neck tumor related to hair follicles removed with no return of the tumor.
April 2024 in “Current Rheumatology Reviews” MCTD should be considered in children with recurring muscle issues, lupus-like symptoms, and edema.
11 citations
,
May 2012 in “Genesis” Bmpr2 and Acvr2a receptors are crucial for hair retention and color.
May 2021 in “Journal of the Endocrine Society” A woman with a rare ovarian tumor and hyperparathyroidism improved after surgery, highlighting the need for reporting unusual cases to understand and manage rare diseases.
47 citations
,
November 1966 in “Archives of Dermatology” Trichorrhexis nodosa is mainly caused by hair trauma, not a metabolic defect.
33 citations
,
January 2007 in “Pediatric dermatology” Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
April 2012 in “Neuropediatrics” Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
76 citations
,
September 1992 in “Endocrinology” The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.