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.
August 2018 in “Pediatric Dermatology” A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.
1 citations
,
May 2024 in “Pediatric Blood & Cancer” Trametinib can effectively treat severe kaposiform lymphangiomatosis when other treatments fail.
21 citations
,
April 2000 in “Journal of Cutaneous Pathology” The hamartoma is an abnormal hair growth with limited development in the upper hair follicle.
2 citations
,
August 2025 in “Reports — Medical Cases Images and Videos” A rare pigmented skin tumor called melanotrichoblastoma was diagnosed in a 51-year-old woman.
7 citations
,
April 2004 in “International Journal of Dermatology” The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
January 2024 in “JCEM case reports” This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
2 citations
,
January 2018 in “European journal of pediatric surgery reports” A baby girl's hair turned straight on one side due to a neck tumor and surgery, but it returned to curly as she recovered.
18 citations
,
April 2002 in “Journal of cutaneous pathology” Tiny infundibular cysts are the main lesions in chloracne, not comedones.
1 citations
,
November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
A new genetic mutation was found causing hair and eye issues in a boy.
2 citations
,
June 1989 in “Archives of Dermatology” A black pore on a man's cheek was a hair follicle tumor and was removed.
September 2019 in “Research Square (Research Square)” Micro-CT helps identify suitable areas for surgical procedures based on blood vessel distribution in hypospadias-affected rats.
6 citations
,
July 2013 in “Archives of Plastic Surgery” Using thigh skin, doctors successfully rebuilt a woman's scalp after removing a large tumor, with no tumor return after 8 months.
Early diagnosis and treatment of hereditary vitamin D-resistant rickets (HVDRR) are crucial to prevent growth issues and other health problems.
January 2022 in “European journal of anatomy” A man had four testicles, two of which were outside the scrotum and looked like fatty lumps.
3 citations
,
January 2019 in “Annals of Dermatology” The study concluded that careful examination is key to differentiate between lipidized fibrous histiocytoma and juvenile xanthogranuloma.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
Additional surgeries are often needed to fix facial issues in patients with orofacial clefts.
3 citations
,
September 2020 in “Case reports in dermatological medicine” Misdiagnosing kerion as a bacterial infection can lead to unnecessary surgery and permanent hair loss.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
2 citations
,
December 2019 in “Cureus” A patient with a scalp condition and benign skin tumor experienced hair loss and did not improve with treatment, choosing not to have surgery despite a small cancer risk.
10 citations
,
August 2002 in “British Journal of Ophthalmology” Surgical excision is the best treatment for SCC, but intralesional cidofovir might be a good alternative.
7 citations
,
September 2013 in “Familial cancer” Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
January 2020 in “Journal of oral medicine and oral surgery” Hair grew in a man's mouth due to a rare condition called heterotopia.
February 2010 in “Journal of The American Academy of Dermatology” Surgery on a baby with a skin disorder improved eyelid position and eye health.
45 citations
,
January 2010 in “Journal of Veterinary Medical Science” A gene mutation causes curly hair and hair loss in rats.
December 2023 in “International Journal of Research in Dermatology” Halo Scalp Ring is a rare newborn hair loss that can be missed, and early diagnosis can avoid extra tests and worry for parents.
88 citations
,
August 1998 in “Carcinogenesis” High levels of ODC and a mutant Ha-ras gene cause tumors in mice.
19 citations
,
April 1995 in “Clinical Genetics” Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.