6 citations
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February 2020 in “Journal of Cutaneous Pathology” Nevus psiloliparus lacks mature hair follicles but keeps other skin structures intact.
1 citations
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October 2012 in “QJM” A 47-year-old man's eyelid swelling didn't improve with basic treatments, so a biopsy was needed.
5 citations
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January 2018 in “Acta Dermatovenerologica Alpina Pannonica et Adriatica” Congenital atrichia with papular lesions causes permanent hair loss in children.
A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.
October 2024 in “Developmental Dynamics” Recent advances show zebrafish can model anemia, Alx4 affects craniofacial and hair development, and mTORC1 is crucial for retinal development.
99 citations
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May 2013 in “Familial cancer” People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
1 citations
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May 2017 in “Molecular and Clinical Oncology” An epidermal cyst in the temporal bone can occur as a rare delayed complication after ear surgery.
15 citations
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March 2009 in “Pediatric dermatology” A young girl developed unusually long eyelashes with a hair loss condition without other health issues or medication causes.
A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.
32 citations
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June 2019 in “Frontiers in Endocrinology” Polycystic Ovary Syndrome (PCOS) is common in women with conditions like anovulation, hirsutism, hair loss, and type 2 diabetes, and it can lead to health risks like heart disease, obesity, insulin resistance, and depression. Non-Classic Congenital Adrenal Hyperplasia (NC-CAH) is also discussed.
April 2024 in “Rheumatology” A young woman with visual issues and other symptoms was diagnosed with lupus and antiphospholipid syndrome, and improved with treatment.
1 citations
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February 2014 in “Italian journal of medicine” An 80-year-old woman with Cronkhite-Canada syndrome had multiple polyps and symptoms like diarrhea, hair loss, nail issues, and dark skin.
23 citations
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August 1983 in “PubMed” Clq deficiency is linked to systemic lupus erythematosus symptoms.
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November 1991 in “Journal of Neuropathology & Experimental Neurology” Brindled mice show abnormal catecholamine neuron development due to copper deficiency.
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March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
50 citations
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February 2007 in “The Journal of Pathology” Somatic BHD mutations are rare in Japanese renal tumors.
30 citations
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October 2014 in “PLOS ONE” BAF200 is essential for proper heart and coronary artery formation.
36 citations
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January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
January 2009 in “Repositório Científico do Instituto Politécnico de Viseu (Instituto Politécnico de Viseu)” The skin lesion was diagnosed as a matrical cyst with unusual features.
63 citations
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January 1999 in “The Journal of Clinical Endocrinology & Metabolism” Polycystic ovaries and early male baldness are inherited traits.
29 citations
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September 1989 in “Journal of The American Academy of Dermatology” Abnormal scalp whorls can indicate brain development issues but may also be seen in neurologically normal people.
1 citations
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January 2015 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” Latanoprost eye drops caused excessive cheek hair growth and eyelash whitening in a woman.
1 citations
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May 2024 in “Skin Appendage Disorders” Early diagnosis with trichoscopy can improve management and quality of life for CCCA patients.
July 2021 in “Physiology and Pharmacology” Umbilical cord masks can help reduce melasma in postpartum women.
5 citations
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February 2015 in “Ophthalmic plastic and reconstructive surgery” Two new types of eyelid cysts were identified, each with different treatment challenges.
22 citations
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March 2018 in “International Ophthalmology” Taking tamsulosin or finasteride and being older increase the risk of floppy iris during cataract surgery.
9 citations
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October 2020 in “Journal of the American Academy of Dermatology” Patients with central centrifugal cicatricial alopecia may have a higher risk of breast and colorectal cancer.
July 2024 in “Clinical Case Reports” Recognizing rare hair loss patterns in young females can improve understanding and treatment.
5 citations
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December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.