Sequential Microsurgical Flap Reconstruction Following Purpura Fulminans during Infancy and Childhood

2002 ◽  
Vol 18 (1) ◽  
pp. 017-022 ◽  
Author(s):  
A. Jester ◽  
K.-L. Waag ◽  
G. Germann ◽  
B. Bickert
Keyword(s):  
Purpura Fulminans ◽  
Flap Reconstruction ◽  
Infancy And Childhood

Complications of Nasoseptal Flap Reconstruction

2016 ◽  
Vol 77 (S 02) ◽  
Author(s):  
Carl Snyderman ◽  
Joseph Chabot ◽  
Nicholas Rowan ◽  
Eric Wang ◽  
Paul Gardner ◽  
...  
Keyword(s):  
Flap Reconstruction ◽  
Nasoseptal Flap

Purpura Fulminans in a Patient Homozygous for a Mutation in the Protein C Gene - Prenatal Diagnosis in a Subsequent Pregnancy

1996 ◽  
Vol 75 (03) ◽  
pp. 525-526 ◽  
Author(s):  
M C Alessi ◽  
M F Aillaud ◽  
O Paut ◽  
B Roquelaure ◽  
M Alhenc-Gelas ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Protein C ◽  
Purpura Fulminans ◽  
Subsequent Pregnancy

Severe Homozygous Protein C Deficiency: Identification of a Splice Site Missense Mutation (184, Q → H) in Exon 7 of the Protein C Gene

1994 ◽  
Vol 72 (01) ◽  
pp. 065-069 ◽  
Author(s):  
J M Soria ◽  
D Brito ◽  
J Barceló ◽  
J Fontcuberta ◽  
L Botero ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Gene Product ◽  
Splice Site ◽  
Protein C ◽  
Purpura Fulminans ◽  
Single Strand Conformation Polymorphism ◽  
Donor Splice Site ◽  
Protein C Deficiency ◽  
Donor Splice ◽  
Newborn Child

SummarySingle strand conformation polymorphism (SSCP) analysis of exon 7 of the protein C gene has identified a novel splice site missense mutation (184, Q → H), in a newborn child with purpura fulminans and undetectable protein C levels. The mutation, seen in the homozygous state in the child and in the heterozygous state in her mother, was characterized and found to be a G to C nucleotide substitution at the -1 position of the donor splice site of intron 7 of the protein C gene, which changes histidine 184 for glutamine (184, Q → H). According to analysis of the normal and mutated sequences, this mutation should also abolish the function of the donor splice site of intron 7 of the protein C gene. Since such a mutation is compatible with the absence of gene product in plasma and since DNA sequencing of all protein C gene exons in this patient did not reveal any other mutation, we postulate that mutation 184, Q → H results in the absence of protein C gene product in plasma, which could be the cause of the severe phenotype observed in this patient.

Orbital Outcomes after Periorbital Free Flap Reconstruction

2019 ◽  
Author(s):  
Ramez Philips ◽  
Alexander Graf ◽  
Michael Topf ◽  
Howard Krein ◽  
Ryan Heffelfinger ◽  
...  
Keyword(s):  
Free Flap ◽  
Flap Reconstruction ◽  
Free Flap Reconstruction

Kindler's Syndrome with Recurrent Neutropenia: Report of Two Cases from Saudi Arabia

2020 ◽  
Author(s):  
Yousef Binamer ◽  
Muzamil A. Chisti
Keyword(s):  
Autosomal Recessive ◽  
Common Mechanism ◽  
Sequencing Analysis ◽  
Loss Of Function ◽  
Skin Atrophy ◽  
Whole Exome ◽  
Infancy And Childhood ◽  
Genetics And Genomics ◽  
New Feature ◽  
Generation Sequencing

AbstractKindler syndrome (KS) is a rare photosensitivity disorder with autosomal recessive mode of inheritance. It is characterized by acral blistering in infancy and childhood, progressive poikiloderma, skin atrophy, abnormal photosensitivity, and gingival fragility. Besides these major features, many minor presentations have also been reported in the literature. We are reporting two cases with atypical features of the syndrome and a new feature of recurrent neutropenia. Whole exome sequencing analysis was done using next-generation sequencing which detected a homozygous loss-of-function (LOF) variant of FERMT1 in both patients. The variant is classified as a pathogenic variant as per the American College of Medical Genetics and Genomics guidelines. Homozygous LOF variants of FERMT1 are a common mechanism of KS and as such confirm the diagnosis of KS in our patients even though the presentation was atypical.

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