Results 71 to 80 of about 1,226,922 (193)
16歳,女性。幼少時から四肢に褐色斑が散在しているのに気付いていた。その後次第に顔面,体幹,四肢の色素沈着と同部位の運動時の潮紅が目立つようになってきた。13歳時に皮膚科を受診しレーザー照射を行ったが明らかな効果はなく経過観察とされていた。2008年8月に当科を受診した。初診時,顔面・体幹・四肢に毛細血管拡張と色素沈着,疣状の褐色局面,色素脱失を伴う線状・斑状の萎縮性局面を認めた。上腕,下肢では一部Blaschko線に沿って線状に配列していた。左前腕の生検組織では,皮下脂肪組織が真皮上層まで突出,増生していた。特徴的な臨床像と病理組織像より,中外胚葉の先天性形成異常疾患とされるGoltz症候群(focal dermal hypoplasia)と診断した。
OMORI, Mutsumi +8 more
openaire +1 more source
Multiple odontogenic keratocysts are one of the major diagnostic criteria of Gorlin syndrome and may represent an early manifestation of the disorder in pediatric patients. This report describes the diagnostic process and management of an 11‐year‐old boy who presented with multiple mandibular cystic lesions associated with displacement of developing ...
V. Anguera-Ortega +6 more
wiley +1 more source
Syndromic Multiple Odontogenic Keratocysts Associated With Impacted Teeth: A Rare Case Report
Introduction Odontogenic keratocysts are developmental odontogenic cysts that may occur as solitary lesions or as multiple jaw lesions. Multiple odontogenic keratocysts in young patients should raise suspicion of an underlying syndrome, particularly Gorlin–Goltz syndrome.
Faizal Manrapi +4 more
wiley +1 more source
Multiple abdominal cysts in a patient with Gorlin-Goltz syndrome: a case report
A rare case of symptomatic mesenteric cysts in a patient with Gorlin-Goltz syndrome, associated with various neoplasms, is presented. The patient, known with Gorlin-Goltz syndrome, consulted with increasingly severe abdominal pain and large abdominal ...
Hubens, G +7 more
core +1 more source
Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Case report [PDF]
Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome (NBCCS) comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies, calcifications of the falx cerebri etc.
Belli, E. +11 more
core +2 more sources
Vulvar Apocrine Hidrocystoma: A Rare Case Report
Apocrine hidrocystoma is a rare and benign tumor that usually occurs on the head, neck, and face. Involvement of the vulva is extremely rare, with only a few documented case reports in the literature. The prognosis of the tumor is favorable with surgical excision, with no reported recurrences.
Nastaran Mahmoudnejad +3 more
wiley +1 more source
Focal dermal hypoplasia: A novel finding in disguise
Focal Dermal Hypoplasia (FDH) or Goltz-Gorlin syndrome is an unusual X-linked dominant syndrome characterised by anomalies of both ectodermal and mesodermal structures.We present a case report on the management of a 58 year old Caucasian male with Focal ...
S. Nathwani, K. Martin, R. Bunyan
doaj +1 more source
Goltz syndrome or focal dermal hypoplasia is a hereditary disorder, is a rare mesodermal hypoplasia found primarily in females. It is characterized by linear hypoplasia of the skin and tumors of fat or lipomatous lesions. There are significant defects of the skeleton, dental structures, eyes, soft tissues and skin.
R, Pecorari +7 more
openaire +1 more source
Goltz syndrome is a rare genetic X-linked dominant condition in which ectodermal and mesodermal structures – primarily skin, bones, teeth and eyes – are affected in a mosaic pattern. The skin, being the most accessible organ, allows better visualization of this mosaicism.
PaulaKarina N Gonzales-Carait +1 more
openaire +1 more source
Phenotypical Differentiation of Tremor Using Time Series Feature Extraction and Machine Learning
Abstract Background The clinical diagnosis of tremor disorders depends on the interpretation of subtle movement characteristics, signs, and symptoms. Given the absence of a universally accepted biomarker, differentiation between essential tremor (ET) and tremor‐dominant Parkinson's disease (PD) frequently proves to be non‐trivial. Objective To identify
Verena Häring +16 more
wiley +1 more source

