6533b857fe1ef96bd12b4625
RESEARCH PRODUCT
Depressed indurated plaque with elastorrhexis as a distinctive lesion in Buschke‐Ollendorff syndrome
Carlos MonteagudoB. VazquezJosé M. MartínAna CuestaRebeca Velasco HuiciAndrea EstébanezDolores RamónEsmeralda Silvasubject
AdultMalePathologymedicine.medical_specialtyDermatologySkin DiseasesLesionBuschke–Ollendorff syndrome030207 dermatology & venereal diseases03 medical and health sciences0302 clinical medicinemedicineHumansChildSclerotic boneOsteopoikilosisConnective tissue nevusbusiness.industryGenodermatosisSkin Diseases Geneticmedicine.diseasehumanities030220 oncology & carcinogenesisPediatrics Perinatology and Child HealthFemaleOsteopoikilosisDermatopathologymedicine.symptombusinessdescription
Buschke-Ollendorff syndrome (BOS) is a rare autosomal dominant genodermatosis caused by heterozygous mutations in LEMD3 and characterized by connective tissue nevi and sclerotic bone lesions known as osteopoikilosis. We report a family with three individuals affected by BOS, two of whom manifested clinical and histopathological peculiarities, presenting with a depressed indurated plaque as the main cutaneous manifestation instead of the classic connective tissue nevi. Notable elastorrhexis was present in both biopsies.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2020-03-01 | Pediatric Dermatology |