23 citations
,
January 2015 in “Journal of The American Academy of Dermatology” People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.
28 citations
,
June 1998 in “Clinical Genetics” Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
October 2025 in “Pediatric Dermatology” A 16-year-old boy's facial condition improved with doxycycline, suggesting an immune response to hair follicle damage.
20 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
7 citations
,
January 2012 in “International Journal of Trichology” A man with Woolly Hair Syndrome had very curly, fragile hair, and doctors used a special scalp examination to diagnose him without invasive tests.
4 citations
,
December 2001 in “Endoscopy” Prednisolone and Bactrim improved symptoms in a woman with Cronkhite-Canada syndrome.
4 citations
,
January 1970 in “Journal of Bangladesh College of Physicians and Surgeons” Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
2 citations
,
March 2024 in “Pediatric Dermatology” Two siblings have a rare hair condition caused by a new genetic variant.
5 citations
,
February 2016 in “Sultan Qaboos University medical journal” The patient had a severe itchy rash and hair loss in the armpits.
July 2022 in “European Journal of Dermatology” Brodalumab is more effective than ustekinumab in treating psoriasis.
2 citations
,
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.
2 citations
,
August 2012 in “Journal of the American Academy of Dermatology” Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
5 citations
,
March 2005 in “Pediatric dermatology” Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
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 2024 in “Research Square (Research Square)” A 27-year-old with APS-1 showed improvement in symptoms after treatment.
June 2024 in “Dermatopathology” A rare type of skin cancer on the scalp can be mistaken for hair loss, causing delayed diagnosis and severe damage.
2 citations
,
June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
January 2011 in “Journal of The American Academy of Dermatology” A man developed a painful skin condition after multiple heart procedures involving radiation.
3 citations
,
December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
January 2007 in “Revista del Centro Dermatológico Pascua” A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
March 2021 in “Annals of King Edward Medical University” Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.
5 citations
,
September 2017 in “Medicine” A patient with Cronkhite-Canada Syndrome developed colon cancer that spread to the liver, showing the need for regular cancer checks in such patients.
November 2022 in “Journal of the Endocrine Society” A man's rare adrenal tumor caused feminization and white hair, was removed surgically, and improved after treatment.
69 citations
,
May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
June 2024 in “British Journal of Dermatology” Scalp disease in dermatomyositis causes significant symptoms and has unique features.
January 2016 in “Journal of The American Academy of Dermatology” The woman has a type of scarring hair loss with red bumps around hair follicles.
2 citations
,
January 2014 in “Indian Journal of Critical Care Medicine” Shock can be an early sign of Autoimmune Polyendocrine Syndrome Type II.
January 2026 in “Acta Dermatovenerologica Alpina Pannonica et Adriatica” Accurate diagnosis is crucial for effectively treating severe alopecia and related symptoms.
4 citations
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May 2022 in “Journal of Nepal Medical Association” Steroids, infection management, and nutritional support can significantly improve symptoms of Cronkhite-Canada Syndrome.
June 2023 in “JAAD Case Reports” A man had a rare skin cancer that looked like a bald spot.