1 citations
,
September 2022 in “European Journal of Dermatology” Gene sequencing is essential for diagnosing junctional epidermolysis bullosa.
January 1999 in “Journal of the European Academy of Dermatology and Venereology” RAPK is a rare skin disorder with pigmented spots, mainly on hands and feet, starting in youth.
34 citations
,
September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
2 citations
,
January 2014 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” Sertoli-Leydig cell tumors are rare ovarian tumors that can cause symptoms like menorrhagia.
March 2022 in “Ophthalmology Journal” A woman's rare benign eyelid tumor was correctly identified through detailed tissue analysis.
1 citations
,
December 2019 in “American journal of ophthalmology. Case reports” A rare skin condition caused droopy and outward-turning eyelids in a patient.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
January 2020 in “Journal of oral medicine and oral surgery” Hair grew in a man's mouth due to a rare condition called heterotopia.
84 citations
,
March 2002 in “The Journal of Dermatology” Steatocystoma multiplex is a skin condition starting around age 26, linked to hair follicles, and related to eruptive vellus hair cysts.
7 citations
,
September 2014 in “Journal of the American Academy of Dermatology” Dermoscopy helps accurately diagnose and treat epidermal cysts.
23 citations
,
September 2014 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Laser treatments are the most effective for porokeratotic adnexal ostial nevus.
99 citations
,
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.
September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
April 2025 in “Indian Journal of Paediatric Dermatology” Trichorrhexis invaginata can occur with tinea capitis, though it's rare.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
March 2022 in “JAAD case reports” A man had a non-cancerous, fast-growing skin lump on his arm that was removed with surgery.
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.
3 citations
,
October 2001 in “British Journal of Ophthalmology” An isolated episcleral plasmacytoma can mimic episcleritis, making diagnosis challenging.
14 citations
,
June 2019 in “BMC infectious diseases” A rare fungal infection on a child's scalp was successfully treated with antifungal medication.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
26 citations
,
September 1990 in “Ophthalmology” The study found no common cause for a girl's crystalline cataract and uncombable hair, suggesting their co-occurrence might be coincidental.
April 2020 in “Journal of the Endocrine Society” Early diagnosis of PSIS can lead to normal height with growth hormone and testosterone treatment.
1 citations
,
April 2025 in “Clinical Cosmetic and Investigational Dermatology” A rare skin lesion in a 64-year-old woman was successfully treated with a laser, showing minimal redness and no return after one month.
September 2022 in “TURKDERM” A rare benign skin nodule was found on the buttock, a unique location for this condition.
32 citations
,
May 1986 in “Archives of Dermatology” The condition is likely inherited in an autosomal-dominant pattern.
A woman with a rare hair loss condition developed skin cancer in the bald area.
November 2025 in “Frontiers in Endocrinology” A rare tumor caused unusual hormone production leading to Cushing syndrome.
November 2025 in “Indian Dermatology Online Journal” Clouston syndrome can lead to skin cancer, so monitoring is crucial.
18 citations
,
June 2014 in “Anais Brasileiros de Dermatologia” Clouston Syndrome can be linked to rare sweat gland tumors.
January 2021 in “Indian journal of veterinary pathology” A 15-year-old female labrador had a large ovarian tumor removed.