Related Experiment Video
Updated: Dec 16, 2025
A Patient-Derived Xenograft Model for Venous Malformation
Published on: June 15, 2020
Clinical and genetic evaluation of six children with diffuse capillary malformation and undergrowth
Xavier Cubiró1, Eduardo Rozas-Muñoz1, Pau Castel2,3
1Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Insights
Diffuse capillary malformation with undergrowth (CMU) is a rare condition characterized by extensive reticular capillary malformations and limb undergrowth. Genetic analysis identified somatic mutations in DDR2, GRHL2, and PIK3CA genes in affected patients.
Area of Science:
- Genetics
- Dermatology
- Pediatric Medicine
Background:
- Diffuse capillary malformation with overgrowth (DCMO) is recognized, but capillary malformation with undergrowth (CMU) is less documented.
- CMU presents with capillary malformations and disproportionate limb undergrowth.
Purpose of the Study:
- To delineate the clinical characteristics of patients diagnosed with CMU.
- To identify associated somatic mutations in individuals with CMU.
Main Methods:
- Patient data was extracted from a vascular anomalies clinic database.
- Limb measurements (girth and length) were conducted, with radiographic studies for length discrepancies.
- Whole-exome sequencing was performed on blood and tissue samples.
Main Results:
- Six patients with CMU were identified, exhibiting reticulated, segmental capillary malformations primarily on lower limbs or hemibody.
- Limb discrepancies, including girth and length, were noted in most patients.
- Pathogenic somatic mutations in DDR2, GRHL2, and PIK3CA genes were detected.
Conclusions:
- The term "diffuse capillary malformation with undergrowth" is proposed for extensive reticular CMs with proportionate undergrowth.
- All patients demonstrated favorable outcomes.
- No clear genotype-phenotype correlation was established.
Background:
Diffuse capillary malformation with overgrowth (DCMO) has been well described. However, capillary malformation with undergrowth (CMU) has been less reported in the literature.
Objectives:
We sought to describe the clinical features and determine associated somatic mutations in patients with CMU.
Methods:
We searched our multidisciplinary vascular anomalies clinic database for patients with CMU. Girth and length limb measurements were performed. In case of discrepancies in length, long leg radiograph studies were obtained. Whole-exome sequencing of blood and involved tissue DNA was carried out.
Results:
We included six patients with CM and soft-tissue and bone undergrowth. CMs were patchy, reticulated, segmental, poorly demarcated, pink-red stains affecting the lower limb (five patients) or the whole hemibody (one patient). In five patients, the stain was diffuse, affecting more than one anatomic region. Prominent superficial veins were observed in three patients. Five patients presented with lower limb girth discrepancy; in three of them, there was also lower limb length discrepancy. In the remaining patient, only lower limb length discrepancy was found. Whole-exome sequencing from DNA tissue/blood detected previously described pathogenic somatic mutations on DDR2 (c.314G > A; p.Arg105His), GRHL2 (c.791A > G; p.Glu264Gly), and PIK3CA (c.2740G > A; p.Gly914Arg) genes.
Conclusion:
We propose the term "diffuse capillary malformation with undergrowth" for extensive reticular CMs associated with proportionate undergrowth. All our patients had a favorable outcome, and no genotype-phenotype association was found.
More Related Videos
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
05:12Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model
Published on: September 4, 2017
