Neonatal Onset Diffuse Cutaneous Mastocytosis: A Case Report and Review of the Literature

2010 ◽  
Vol 28 (5) ◽  
pp. 542-546 ◽  
Author(s):  
Hiroshi Koga ◽  
Takayuki Kokubo ◽  
Mutsumi Akaishi ◽  
Koichi Iida ◽  
Seigo Korematsu
Keyword(s):  
Case Report ◽  
Review Of The Literature ◽  
Neonatal Onset ◽  
Cutaneous Mastocytosis

scholarly journals Genotypic and phenotypic characteristics of Chinese neonates with cutaneous mastocytosis: a case report and literature review

2020 ◽  
Vol 48 (9) ◽  
pp. 030006052095262
Author(s):  
Yanfang Li ◽  
Xiaoying Li ◽  
Xianghong Liu ◽  
Lili Kang ◽  
Xinjie Liu
Keyword(s):  
Case Report ◽  
Mast Cells ◽  
Literature Review ◽  
Urticaria Pigmentosa ◽  
Phenotypic Characteristics ◽  
Neonatal Onset ◽  
Activating Mutation ◽  
Kit Gene ◽  
Cutaneous Mastocytosis

Mastocytosis is an accumulation of clonal mast cells within tissues and it is most commonly caused by an activating mutation in the KIT gene. In this study, we report a neonatal case who presented with diffuse cutaneous mastocytosis (CM) at birth. In China, nine other cases of neonatal-onset CM have been reported in the literature since 2006. In those cases, diffuse CM and urticaria pigmentosa were the main symptoms, and mutations in exon 17 at codon 816 in KIT were identified.

Linear IgA bullous dermatosis of neonatal onset: case report and review of the literature

2004 ◽  
Vol 93 (6) ◽  
pp. 850-852 ◽  
Author(s):  
Y Kishida ◽  
J Kameyama ◽  
M Nei ◽  
T Hashimoto ◽  
K Baba
Keyword(s):  
Case Report ◽  
Review Of The Literature ◽  
Neonatal Onset ◽  
Bullous Dermatosis ◽  
Linear Iga Bullous Dermatosis

scholarly journals Poikiloderma With Neutropenia and Mastocytosis: A Case Report and a Review of Dermatological Signs

2021 ◽  
Vol 8 ◽  
Author(s):  
Vincenzo Piccolo ◽  
Teresa Russo ◽  
Daniela Di Pinto ◽  
Elvira Pota ◽  
Martina Di Martino ◽  
...  
Keyword(s):  
Case Report ◽  
Respiratory Infections ◽  
Genetic Disorder ◽  
Homozygous Mutation ◽  
Review Of The Literature ◽  
Congenital Neutropenia ◽  
Skin Cancers ◽  
Uncommon Condition ◽  
Poikiloderma With Neutropenia ◽  
Cutaneous Mastocytosis

Poikiloderma with neutropenia (PN) is a very rare genetic disorder mainly characterized by poikiloderma and congenital neutropenia, which explains the recurrence of respiratory infections and risk of developing bronchiectasis. Patients are also prone to develop hematological and skin cancers. Here, we present the case of a patient, the only child of apparently unrelated Serbian parents, affected by PN resulting from the homozygous mutation NM_024598.3:c.243G>A (p.Trp81Ter) of USB1; early onset of poikiloderma (1 year of age) was associated with cutaneous mastocytosis. We also provide a review of the literature on this uncommon condition with a focus on dermatological findings.

Bone marrow features in Pearson syndrome with neonatal onset: A case report and review of the literature

2017 ◽  
Vol 65 (4) ◽  
pp. e26939 ◽  
Author(s):  
Elisa Tadiotto ◽  
Evelina Maines ◽  
Daniela Degani ◽  
Rita Balter ◽  
Andrea Bordugo ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Case Report ◽  
Review Of The Literature ◽  
Pearson Syndrome ◽  
Neonatal Onset

Tuberculous brain abscess: A case report with a review of the literature in English

1999 ◽  
Vol 19 (3) ◽  
pp. 328-335
Author(s):  
Shanop Shuangshoti Shuangshoti ◽  
Samruay Shuangshoti
Keyword(s):  
Case Report ◽  
Brain Abscess ◽  
Review Of The Literature ◽  
Tuberculous Brain Abscess

Abstract #1038: Familial Dysalbuminemic Hyperthyroxinemia: A Case Report and Review of the Literature

2015 ◽  
Vol 21 ◽  
pp. 209-210
Author(s):  
Richa Bhattarai ◽  
Bidur Dhakal ◽  
Joseph Belsky ◽  
Nadja Pedersen ◽  
Maria Jan ◽  
...  
Keyword(s):  
Case Report ◽  
Review Of The Literature
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