Volume 5, Issue 4, December 2019, Page: 196-199
Whole Exome Sequencing Revealed a Candidate Gene for Finkelstein-Seidlmayer Disease
Gabriel Bronz, Medical Faculty, University of Bern, Bern, Switzerland
Heinz Gabriel, Centre for Genomics and Transcriptomics, Tuebingen, Germany
Sebastiano Antonio Lava, Pediatric Cardiology Unit, Department of Pediatrics, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland
Gian Paolo Ramelli, Service of Neuropediatry, Hospital of Bellinzona, Bellinzona, Switzerland; Medical Faculty, University of Basel, Basel, Switzerland
Manuel Luedeke, Centre for Genomics and Transcriptomics, Tuebingen, Germany
Saskia Biskup, Centre for Genomics and Transcriptomics, Tuebingen, Germany
Carlo Mainetti, Service of Dermatology, Hospital of Bellinzona, Bellinzona, Switzerland
Alessandra Ferrarini, Service of Medical Genetics, Italian Hospital of Lugano, Lugano, Switzerland; Medical Faculty, University of Lugano, Lugano, Switzerland
Received: Aug. 6, 2019;       Accepted: Sep. 11, 2019;       Published: Sep. 26, 2019
DOI: 10.11648/j.ajp.20190504.15      View  21      Downloads  10
Background: Finkelstein-Seidlmayer disease (FSD) is a benign cutaneous small-vessel leukocytoclastic vasculitis syndrome, which normally affects children between 2-60 months in a male-to-female ratio of 2:1. Skin lesions may appear as papules, erythematous macules, or urticaria. They are symmetric, sharp-edged and favouring the face, ears and extremities. Frequently they are targetoid, annular, medallion-like, or cockade. Fever and extracutaneous involvement are rare and spontaneous resolution occurs in 1-3 weeks. Case Information: In 2015, we reported a familial occurrence of FSD. Patients described in that article were the mother and all her three sons. All of them had a history of recurrent and relapsing non-thrombocytopenic, red-to-purpuric skin lesions, with a neonatal-onset. There was no systemic involvement. Anamnestic data revealed that maternal aunt, cousin and grandmother had also a positive history of neonatal onset of an acute cockade purpura and oedema. At that time, we suspected a genetic form of FSD with an autosomal dominant transmission or X-linked inheritance and incomplete penetrance. Method and Results: Blood samples were obtained from all available family members and a whole exome sequencing (WES) was performed on various affected and non-affected members of this family. The genetic analysis identified a common new mutation in the HCK gene. Conclusion: Up now, FSD is considered a sporadic disease and no genetic researches have been published on affected patients. We performed WES on a previously reported familiar case of FSD and the result was a common mutation in HCK gene. We found out the mutation on all the analysed affected and obligate-carrier members of the family. HCK gene encodes for a hematopoietic cell kinase protein, which is a member of the SRC family of cytoplasmic tyrosine kinases (SFK). We propose that HCK gene could be a candidate gene in the pathophysiology of some types of FSD. We also discuss the autosomal dominant transmission and incomplete penetrance of these specific types of disease.
Finkelstein-Seidlmayer Disease, Acute Cockade Purpura, Oedema of Young Children, Small-vessel Leukocytoclastic Vasculitis, Whole Exome Sequencing
To cite this article
Gabriel Bronz, Heinz Gabriel, Sebastiano Antonio Lava, Gian Paolo Ramelli, Manuel Luedeke, Saskia Biskup, Carlo Mainetti, Alessandra Ferrarini, Whole Exome Sequencing Revealed a Candidate Gene for Finkelstein-Seidlmayer Disease, American Journal of Pediatrics. Vol. 5, No. 4, 2019, pp. 196-199. doi: 10.11648/j.ajp.20190504.15
Copyright © 2019 Authors retain the copyright of this article.
This article is an open access article distributed under the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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