scholarly journals Mosaic trisomy 12 diagnosed in a female patient: clinical features, genetic analysis, and review of the literature

2021 ◽  
Author(s):  
Daniela Hainz ◽  
Marcus Krüger ◽  
Daniela Reber ◽  
Karl Mehnert ◽  
Theresa Brunet ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Female Patient ◽  
Clinical Features ◽  
Review Of The Literature ◽  
Trisomy 12 ◽  
Mosaic Trisomy

scholarly journals The Role of Trichoscopy in Keratosis Follicularis Spinulosa Decalvans: Case Report and Review of the Literature

2020 ◽  
pp. 1-7
Author(s):  
Aurora Alessandrini ◽  
Giancarlo Brattoli ◽  
Bianca Maria Piraccini ◽  
Ambra Di Altobrando ◽  
Michela Starace
Keyword(s):  
Case Report ◽  
Female Patient ◽  
Clinical Features ◽  
Diagnosis And Treatment ◽  
Skin Involvement ◽  
Review Of The Literature ◽  
Case Presentation ◽  
Keratosis Follicularis ◽  
Scarring Alopecia

<b><i>Introduction:</i></b> Keratosis follicularis spinulosa decalvans (KFSD) is a rare, X-linked, hereditary disorder of keratinization, characterized by skin involvement and progressive scarring alopecia of scalp, eyebrows, and eyelashes. The diagnosis is helped by the particular clinical features, but pathology is mandatory. <b><i>Case Presentation:</i></b> We described a case of a female patient referred to the outpatient’s hair consultation of our department, in which we performed trichoscopy as a very useful tool for the diagnosis, followed by pathology that confirmed KFSD. <b><i>Conclusion:</i></b> In our article, we underlined the importance of trichoscopy for the diagnosis of this hair disease, with also a review of the literature on diagnosis and treatment.

Mosaic Trisomy 12: Prenatal Diagnosis at Amniocentesis and Molecular Genetic Analysis on Fetal Tissues

2020 ◽  
pp. 1-7
Author(s):  
Paola Bonasoni ◽  
Gabriele Tonni ◽  
Giuseppina Comitini ◽  
Veronica Barbieri ◽  
Monia Rinaldini ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Analysis ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Fetal Tissues ◽  
Trisomy 12 ◽  
Mosaic Trisomy

scholarly journals Rhinophyma and Gnathophyma Concomitantly in a 54-Year-Old Female a Clinical-Histopathology Correlation and Review of the Literature

2018 ◽  
Vol 3 (7) ◽  
Keyword(s):  
Chronic Inflammation ◽  
Female Patient ◽  
Clinical Features ◽  
Great Majority ◽  
Surgical Removal ◽  
Review Of The Literature ◽  
Tumor Mass ◽  
Last Stage ◽  
Dermatologic Disease ◽  
Progressive Enlargement

Rhinophyma (Greek “nose growth”) is a benign dermatologic disease of the nose [1]. It is characterized by a slowly progressive enlargement of the nasal skin, with irregular thickening and nodular deformation leading to an erythematous appearing nose. Phyma is the last stage of rosacea and is due to chronic inflammation and edema. Although the great majority of phymatous lesions occur on the nose (rhinophyma), they may also occur at other sites. It affects mostly men. Even though the exact cause of rhinophyma is unknown, it is believed to be multifactorial in origin with a principal etiology of unregulated superficial vasodilation. The main reasons that urge the patients to seek help are functional and cosmetic impairments, such as nasal obstruction or disfigurement. Surgical removal of the hyperplastic tumor mass is the treatment of choice for rhinophyma. The aim of the article is to present an update on the pathophysiology, clinical features and treatment of rhinophyma and gnathophyma in a 54-year-old female patient.

scholarly journals Mosaic trisomy 12 at amniocentesis: Prenatal diagnosis and molecular genetic analysis

2013 ◽  
Vol 52 (1) ◽  
pp. 97-105 ◽  
Author(s):  
Chih-Ping Chen ◽  
Yi-Ning Su ◽  
Jun-Wei Su ◽  
Schu-Rern Chern ◽  
Yu-Ting Chen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Analysis ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Trisomy 12 ◽  
Mosaic Trisomy

scholarly journals A rare case of eight multiple primary malignant neoplasms in a female patient: A case report and review of the literature

2014 ◽  
Vol 9 (2) ◽  
pp. 587-590 ◽  
Author(s):  
JIEMIN ZHAO ◽  
YAN TAN ◽  
YUGANG WU ◽  
WEI ZHAO ◽  
JUN WU ◽  
...  
Keyword(s):  
Case Report ◽  
Female Patient ◽  
Rare Case ◽  
Malignant Neoplasms ◽  
Review Of The Literature ◽  
Multiple Primary

Clinical Features and Genetic Analysis of Children With Hyperekplexia in Korea

2012 ◽  
Vol 28 (1) ◽  
pp. 90-94 ◽  
Author(s):  
Cha Gon Lee ◽  
Min-Jung Kwon ◽  
Hee Joon Yu ◽  
Sook Hyun Nam ◽  
Jeehun Lee ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Clinical Features

Clinical Features, Natural History and Outcomes of Intraneural Perineuriomas: A Systematic Review of the Literature

2021 ◽  
Author(s):  
Karina A. Lenartowicz ◽  
Anshit Goyal ◽  
Michelle L. Mauermann ◽  
Thomas J. Wilson ◽  
Robert J. Spinner
Keyword(s):  
Systematic Review ◽  
Natural History ◽  
Clinical Features ◽  
Review Of The Literature
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