Maffucci’s syndrome: a case report
DOI:
https://doi.org/10.66344/jpad.15.4.2005.669Keywords:
Maffucci’s syndrome, hemangiomas, enchondromasAbstract
Maffucci’s syndrome comprises of multiple venous malformations in combination with dyschondroplasia and a variety of cutaneous, vascular, chondro-osseous and other benign and malignant mesodermal growths. Typically these tumors present in early childhood and may lead to significant deformity. We report a 21-year-old young man with 8 years history of multiple soft as well as firm nodules over his feet and shins, which proved to be hemangiomas and enchondromas on radiology and histopathology respectively. The tumors are important to recognize because of their high malignant potential.References
Hopyan S, Gokgoz N, Poon R, Gensure RC, Yu C, Cole WG et al.. A mutant PTH/PTHrP type І receptor in enchondromatosis. Nat Genet 2002; 30: 306-10.
Rozeman LB, Sangiorgi L, Briaire De Bruiin IH, Mainil Varlet P, Bertoni F et al. Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p. R150C. Hum Mutat 2004; 24: 466-73.
Kaplan RP, Wang JT, Amron DM, Kaplan L. Maffucci's syndrome: two case reports with a literature review. J Am Acad Dermatol 1993; 29: 894-9.
Albregts AE, Rapini RP. Malignancy in Maffucci's syndrome. Dermatol Clin 1995; 13: 73-8.
Kuwahara RT, Skinner RB Jr. Maffucci syndrome: a case report. Cutis 2002; 69: 21-2.
Atherton DJ, Moss C. Naevi and Other Developmental Defects. In: Burns T, Breathnach S, Cox N, Griffiths C, editors. Rook’s Textbook of Dermatology, 7th edn. Oxford: Blackwell Science; 2004. p.15.85.
Shepherd V, Godbolt A, Casey T. Maffucci's syndrome with extensive gastrointestinal involvement. Australas J Dermatol 2005; 46: 33-7.
Balcer LJ, Galetta SL, Cornblath WT, Liu GT. Neuro-opthalmological manifestations of Maffucci’s syndrome and Ollier’s disease. J Neuroopthalmol 1999; 19: 62-6.
Rector JT, Gray CL, Sharpe RW, Hall FW, Thomas W, Jones W. Acute lymphoid leukemia associated with Maffucci's syndrome. Am J Pediatr Hematol Oncol 1993; 15: 427-9.
Mellon CD, Carter JE, Owen DB. Ollier's disease and Maffucci's syndrome: distinct entities or a continuum. Case report: enchondromatosis complicated by an intracranial glioma. J Neurol 1988; 235: 376-8.
Downloads
Published
How to Cite
Issue
Section
License
Submission declaration
Authors retain the copyright to their work and grant the 'Journal of Pakistan Association of Dermatologists (JPAD)' the right of first publication under a Creative Commons Attribution 4.0 International (CC BY 4.0) license. This license allows others to share, adapt, and reuse the work for any purpose, including commercial use, as long as appropriate credit is given to the original authors and the journal.
By submitting a manuscript, authors confirm that the work has not been published previously (except as an abstract, lecture, or academic thesis), is not under review elsewhere, and has been approved by all authors and relevant authorities. Once accepted, the article will be openly accessible under the CC BY 4.0 license, ensuring wide dissemination and reuse with proper attribution.