April 2020 in “Journal of the Endocrine Society” A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.
November 2023 in “JCEM Case Reports” A postmenopausal woman's excess male hormone symptoms improved after her ovaries were removed.
May 2015 in “Actas Dermo-Sifiliográficas” A young man was unexpectedly diagnosed with basal cell carcinoma after a scalp examination and confocal microscopy.
January 2024 in “Wiadomości Lekarskie” Pre-surgical embolization and a two-stage resection improve outcomes for rare sacral tumors.
50 citations
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January 1941 in “Annals of Internal Medicine” Idiopathic hypoparathyroidism is rare and can be managed with dihydrotachysterol.
March 2016 in “Journal of the Turkish-German Gynecological Association” The woman likely has a hormonal imbalance causing excessive hair growth.
2 citations
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November 2006 in “Pump Industry Analyst” Pilomatricomas don't follow the usual hair follicle cell differentiation process.
September 2023 in “Journal of the American Academy of Dermatology” BAP1 mutations are rare in pediatric melanocytic tumors and may develop later in life.
April 2023 in “Zenodo (CERN European Organization for Nuclear Research)” Frequent blood transfusions in beta thalassemia patients can lead to thyroid problems.
3 citations
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December 1991 in “PubMed” The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
6 citations
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February 2016 in “American Journal of Dermatopathology” The boy with woolly hair nevus had thinner hair and abnormal hair follicles, which improved with treatment but worsened when treatment stopped.
9 citations
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August 2002 in “British journal of ophthalmology” The document reports a rare case of ECCL with a new association with optic disc colobomas.
4 citations
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March 2021 in “Case Reports” A woman's excessive hair growth and masculine features were due to a rare benign ovarian tumor and endometrial cancer, which improved after surgery.
5 citations
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January 2014 in “Journal of Cutaneous and Aesthetic Surgery” A woman had 13 non-cancerous cysts on her scalp successfully removed in one surgery.
June 2022 in “Indian journal of clinical and experimental opthalmology” The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
April 2012 in “Informa Healthcare eBooks” Temporal triangular alopecia is a lifelong condition with hairless patches on the side of the head that may be present from birth.
17 citations
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January 2014 in “Journal of Oral and Maxillofacial Pathology” Seborrheic keratosis is a common, harmless skin growth that can look like cancer, so it may need a biopsy.
October 2023 in “Journal of the Endocrine Society” A woman's cyclic Cushing syndrome was caused by a tumor in her adrenal gland that produced ACTH.
July 1998 in “Annals of saudi medicine/Annals of Saudi medicine” A misdiagnosed case of HAIR-AN syndrome led to unnecessary surgeries and highlighted the importance of correct diagnosis and treatment.
January 2017 in “Enlighten: Publications (The University of Glasgow)” Activating β-catenin and inactivating PTEN cause follicular tumors, not papillomas, similar to those in Cowden’s Disease.
15 citations
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November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
November 2022 in “Journal of the Endocrine Society” A woman's masculine symptoms were caused by a rare tumor in her left ovary, which was found using a special blood test.
34 citations
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November 2017 in “Gynecological Endocrinology” A transwoman developed a brain tumor after nine years of hormone therapy, suggesting a possible link between the treatment and tumor development.
2 citations
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May 2006 in “Archives of Pathology & Laboratory Medicine” Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
July 1993 in “学術講演梗概集. A, 材料施工,防火,海洋,情報システム技術” Evaluate prolactin levels with androgen and thyroid tests to rule out endocrine issues in patients with SAHA syndrome symptoms.
October 2019 in “European Journal of Dermatology” The boy's hair and skin color differences are due to a pigmentation disorder.
1 citations
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September 2018 in “Australasian Journal of Dermatology” A boy with GAPO syndrome had hair loss similar to male pattern baldness without hormone issues, possibly due to skin or blood vessel problems.
February 2026 in “Pediatrics in Review” A newborn with severe low blood sugar due to a genetic issue needed major surgery after standard treatments failed.
Improved nutrition quickly healed the patient's skin lesions.
January 2025 in “Indian Journal of Paediatric Dermatology” Biopsy is crucial to correctly diagnose granuloma annulare, which can mimic other conditions like alopecia mucinosa.