A 2 year old boy is referred by a peripheral dermatologist to the specialized pediatric dermatology department because of multiple small cutaneous lesions of capillary malformation disseminated over the body. Some of these lesions were already present at birth, but in the past year some new lesions developed to a total of nine. There is no family history of vascular malformations, taking into account that our patient is the first child to two fathers, with one being the biological father. There is no known information about the mother, since a donor ovum was used for in vitro fertilization and the pregnancy was carried to term by a surrogate mother. The pregnancy and delivery were reportedly without complications. Clinical examination revealed a total of nine sharply demarcated erythematous maculae, some of them with characteristic halo, suggestive of capillary malformation-arteriovenous malformation (CM-AVM) syndrome.
Besides thorough questioning of family history and clinical examination, diagnostic work-up includes genetic research for a RASA-1 mutation or, if negative, an EPHB-4 mutation (1). A blood sample was taken for mutation analysis and revealed a RASA-1 mutation (c.1972 1973del CT, p(Leu658)). Based on recent literature our patient met the necessary diagnostic criteria to make a certainty diagnosis of CM-AVM syndrome, because of the presence of at least three capillary malformations AND presence of a RASA-1 mutation (2).
Next, magnetic resonance imaging of the brain and the spine was performed in order to screen for possible associated arteriovenous malformations and arteriovenous fistulas. This showed an extensive arteriovenous malformation of the conus medullaris localized anterior intradural from high thoracal to sacral region. Our patient was referred to the neurosurgery department for further advise. They concluded to two therapeutic options, either endovascular or neurosurgically. Because at this moment there is no impact on the conus or the spine, neither are there clinical repercussions, a multidisciplinary decision was made to postpone further diagnostic (angiography) and invasive therapeutic interventions until toilet training starts and the rebound on the sphincter function can be examined or earlier if mobility disorders are presenting.
This particular case highlights the important role of dermatologists in an early clinical detection as well in searching for associated lesions in case of multiple capillary malformations. Appropriate imaging and a multidisciplinary approach are necessary for an early diagnosis and thus for an early treatment to avoid future morbidity.
References
- Revencu N, Boon L, Mendola A et al. RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. Hum Mut. 2013; 34(12): 1632–1641.
- Orme CM, Boyden LM, Choate KA et al. Capillary Malformation—Arteriovenous Malformation Syndrome: Review of the Literature, Proposed Diagnostic Criteria, and Recommendations for Management. Ped Dermatol. 2013; 30(4):409-415.
Aurélie Abena, Sofie De Scheppera
a Department of dermatology, University Hospital Ghent, Ghent, Belgium