Clinical Images
Coral reef lymphatic malformation: A new clinical phenotype
Marta Ivars1*; Luis Alonso Jiménez2; Cristina Domínguez García2; José Juan Pozo-Kreilinger3; Juan Carlos López-Gutiérrez4
1Department of Dermatology, University Clinic of Navarra, Madrid.
2Department of Pediatric Surgery, University hospital Torrecardenas, Almeria.
3Department of Pathology, University Hospital La Paz, Madrid.
4Department of Pediatric Surgery, University Hospital La Paz, Madrid.
Received Date: 22/12/2021; Published Date: 28/01/2022.
*Corresponding author: Marta Ivars, Department of Dermatology University Clinic of Navarra Marquesado de Santa Marta street 1, 28027, Madrid, Spain.
DOI: 10.55920/IJCIMR.2022.01.001028
Abstract
We present a new clinical phenotype of lymphatic malformation with a characteristic morphology in two young patients. Strikingly, in both patients the lesion had the same anatomic location.
Keywords: Microcystic; lymphatic malformation; D2-40; vascular malformation.
Presentation of the Cases
A 15-year-old girl of gypsy ethnicity presented with a slow-growing exophytic lesion present since birth on the lateral aspect of the right thigh. It caused mild local discomfort. Physical examination revealed a 6 cm brown multilobulated mass (Figure 1). An 11-year-old girl of Moroccan origin presented with a lumpy congenital lesion on the lateral aspect of the right thigh, intermittently draining a foul-smelling exudate. Physical examination revealed a 5.5 cm dark brown multilobulated mass (Figure 2). In both cases the lesion was surgically excised.
Histological study in both cases (Figure 3A) revealed small-medium sized channels lined by flat lymphothelium and irregular smooth muscle. The endothelial cells were immunohistochemically positive for D2-40 (Figure 3B). The diagnosis was microcystic lymphatic malformation (LM).
LMs are benign vascular anomalies secondary to embryologic alterations in the development of the lymphatic system [1]. As vascular malformations, they are present from birth and can cause both anatomical deformation and functional Deficits [1]. Microcystic LMs present as clear, tiny vesicles permeating the subcutaneous tissue and muscles. Patients usually present with serous or bloody exudate, crusting, swelling or even infection in the affected region. Histologically, cystic LMs are composed of vascular spaces filled with eosinophilic, protein-rich fluid [2]. Antibodies against lymphatic endothelial cell markers help to identify LMs [2].
Depending on the clinical presentation, surgery may be offered to some patients. For microcystic LMs, sclerotherapy has been less successful. The utility of systemic rapamycin in the treatment of complex LMs has been demonstrated in several studies [3], and compelling evidence for the use of topical rapamycin has also emerged in recent years [4].
A multidisciplinary approach allows the optimal treatment plan for each patient. LM can be challenging for the clinician. We present this case because of its originality. To the best of our knowledge, these are the first two published cases with this curious phenotype.
Competing interest Disclosures: The authors have no competing interests to declare.
Funding Statement: This article has no funding source.
Reference
- Wassef M, Blei F, Adams D, et al. Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies. Pediatrics. 2015; 136(1):e203-14. [DOI:10.1542/peds.2014-3673].
- Chen EY, Hostikka SL, Oliaei S, Duke W, Schwartz SM, Perkins JA. Similar Histologic Features and Immunohistochemical Staining in Microcystic and Macrocystic Lymphatic Malformations. Lymphat Res Biol. 2009; 7(2):75-80. [DOI:10.1089/lrb.2009.0003].
- Hammill AM, Wentzel M, Gupta A, et al. Sirolimus for the treatment of complicated vascular anomalies in children. Pediatr Blood Cancer. 2011; 57(6):1018-1024. [DOI:10.1002/pbc.23124].
- Ivars M, Redondo P. Efficacy of topical rapamycin for Lymphatic Malformations. JAMA Dermatology. 2016; 153(1). [DOI:10.1001/jamadermatol.2016.3697].
