Surgical extraction of an unusual macrocystic lymphatic malformation in the buttock: case report

Background Macrocystic lymphatic malformation is a rare benign skin disorder, especially the anogenital area, which covers less than .5% of the reported cases. It can cause vesicular and papular lesions on the face, trunk, extremities, and, less frequently, anogenital areas. Although there are currently several therapeutic options, surgical excision is the most widely used, considering the lowest recurrence rate. Case presentation In this article, we describe the case of a 15-year-old male patient who presented with herpetiform skin lesions, corresponding to the diagnosis of macrocystic lymphatic malformation, in the lower region of the right buttock. After confirmation of the diagnosis by histopathology, surgical excision was performed with a tensor fascia lata graft, with successful aesthetic and functional results. Conclusions Considering the diagnosis of macrocystic lymphatic malformation is of utmost importance, although its presence is unusual, to differentiate it from other herpetiform lesions. Despite the existence of multiple approaches today, definitive treatment with surgical extraction is necessary, both to improve the cosmetic aspect and to prevent associated complications. It is suggested that histopathological and imaging diagnostic tools be used as a routine element, in order to increase therapeutic success, as well as decrease the risk of recurrences. Evidence-based medicine ranking Level IV

A Case Report of RASA1-Associated Inherited Lymphoedema with Recurrent Life-Threatening Lymphangitis

Background Most cases of lymphoedema are secondary to other causes, while cases of primary lymphoedema, in particular that of congenital origin, are uncommon. Limited genetic disorders are so far known to be associated with lymphatic malformation including mutations in RASA1. This clinical case highlights the possible complications of RASA1-associated lymphatic malformation in a female suffering from recurrent life-threatening septic lymphangitis. Case summary A 23-year-old female patient presented with congenital lymphoedema of the lower right extremity. At the age of eight she first suffered from an episode of lymphangitis. Thereafter, she developed recurrent episodes of lymphangitis predominately occurring during menstruation and culminating into severe and life-threatening septicaemias. Due to the menstrual association, endometriosis was suspected but could not be confirmed. Furthermore, angiography could not detect any sign of arteriovenous fistula. Single-Photon-Emission-Computed-Tomography confirmed absent major lymphatics of the right leg with severely impaired and prolonged dermal lymphatic backflow. Genetic testing identified a disease-causing variant in the RASA1 gene. Discussion To our knowledge, this is the first case of recurrent septic lymphangitis with close relation to menstruation in a female with RASA1-associated lymphatic malformation. Due to the possible de novo or somatic origin of a pathogenic variant, a genetic disease should be considered in spite of an unremarkable family history or a localised lymphoedema. Although there is no curative therapy available yet, the knowledge of the underlying genetic defect is important for interdisciplinary patient care and might be crucial for individual molecular therapies in the future.

Bronchogenic cyst of the posterior neck mimicking lymphatic malformation

Bronchogenic Cysts are embryologic malformations of the foregut and are rarely found head and neck region. Here we present a case of an upper scapular/lower posterior neck cystic mass which was initially suspicious for lymphatic malformation but confirmed by pathology to be a ectopic bronchogenic cyst.