Journal Article (Review Article)

DKFZ-2025-01368

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Infantile myofibromatosis and capillary malformation of the skin due to PDGFRB mosaicism.

Pudig, L. ; Lassmann, S. ; Jacob, S. ; Nastainczyk-Wulf, M. ; Haak, A. ; Werner, M.DKFZ* ; Kapp, F. G. ; Hettmer, S.

2025
SpringerOpen Heidelberg ˜[u.a.]œ

Abstract: This report describes the case of a 25-year-old female patient with multicentric infantile myofibromatosis since early infancy, superficial capillary malformations and congenital hypoplasia of the third and fourth finger of her right hand. All known lesions were located in the upper extremities, the chest and the upper back. A pathogenic, gain-of-function platelet-derived growth factor receptor-beta (PDGFRB) variant (p.N666K, c.1998 C > A) was detected in two myofibromas and in a capillary malformation on the upper back, but not in DNA obtained from blood mononuclear cells. Thus, PDGFRB mosaicism appears to account for the patient's myofibromas and capillary malformations, supporting a broad spectrum of PDGFRB-driven anomalies ranging from myofibromas to vascular malformations.

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Contributing Institute(s):

1. DKTK Koordinierungsstelle Freiburg (FR01)

Research Program(s):

1. 899 - ohne Topic (POF4-899) (POF4-899)

Appears in the scientific report 2025

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Database coverage:
; ; ; Article Processing Charges ; Clarivate Analytics Master Journal List ; DOAJ Seal ; Emerging Sources Citation Index ; Fees ; SCOPUS ; Web of Science Core Collection

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