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- Title
A boy with limb deformities and a blue lobulated mass of the palm.
- Authors
Beniwal, Ranjana; Budania, Anil; Bhardwaj, Abhishek; Yadav, Taruna; Shaikh, Minhaj
- Abstract
An 11-year-old boy with short stature, the child of non-consanguineous parents, presented with deformities of the left forearm and leg that were first noted by his parents at 6 months of age. Clinically, MS presents as a nonhereditary mesodermal dysplasia with enchondromas and vascular anomalies (both venous malformations and a distinctive tumor, the spindle cell hemangioendothelioma) that are typically asymmetric, occurring unilaterally in 50% of patients. With vascular anomalies being an integral component of MS, conditions such as Klippel-Trenaunay syndrome, Kaposi sarcoma, glomuvenous malformations, Proteus syndrome, blue rubber bleb nevus syndrome, and Ollier disease are frequently confused with MS.
- Subjects
HUMAN abnormalities; ISOCITRATE dehydrogenase; PALMS; OVARIAN tumors; KAPOSI'S sarcoma
- Publication
Pediatric Dermatology, 2019, Vol 36, Issue 6, p946
- ISSN
0736-8046
- Publication type
Article
- DOI
10.1111/pde.13962