Preliminary investigation of human lymphatic malformations in vitro.

PURPOSE: To develop an in vitro model of human lymphatic malformations (LM) that reflects histological characteristics of native LM. METHODS: Fresh human LM (n = 6) were harvested, sectioned, explanted into a fibrinogen gel, and cultured. A total of 25 explants were developed and observed for primary and peripheral cellular growth. On days 9 to 10, the cultured tissues and gels were collected and fixed in 10% formalin. Primary LM and surrounding gel matrix were sectioned and stained for H&E analysis. Immunohistochemistry was performed for Prox-1 and D2-40, known markers for lymphatic endothelium, and Ki-67, a marker of cellular proliferation. RESULTS: On culture day 3, cells were observed to grow into the gel surrounding the primary tissue explants. Persistent and significant growth into the gel matrix was observed for each specimen at subsequent measurement intervals (day 6 and day 10, P < .0001). H&E staining of all the LM explants demonstrated survival and intact organization and cellular structure reflective of the original LM specimens. Microchannels were observed in the surrounding gel suggesting the presence of newly formed lymphatic vessels. Positive-immunohistochemical staining for D2-40 and Prox-1 revealed organized lymphatic endothelia within each specimen and associated microchannels distal to the explants in the gel matrix. Scattered cells in the gel matrix stained positive for Ki-67. CONCLUSIONS: This experimental model suggests that human LM can be preserved and observed to grow in vitro with structural characteristics, and immunohistologic qualities similar to native LM. This model may provide a facile tool for basic and translational research on LM.

Intralesional endoscopy of advanced lymphatic malformations of the head and neck: a new diagnostic approach and a potential therapeutic tool.

OBJECTIVES: To evaluate the morphologic properties of advanced lymphatic malformations of the head and neck and to investigate possible therapeutic interventions by intralesional endoscopy. DESIGN: This case study analyzes the outcome of intralesional endoscopy of lymphatic malformations of the head and neck and discusses the results of this approach. SETTING: Academic medical center. PATIENTS: Endoscopy was performed on 4 patients with cervicofacial lymphatic malformations. INTERVENTIONS: Endoscopy of lymphatic malformations. RESULTS: The endoscopic inspection and assessment of the lesions revealed detailed information about morphologic aspects like the structure of intralesional septa, internal vascularization, and intercystic correspondence and channel networks. Anatomic landmarks could be followed on their intralesional courses. CONCLUSIONS: Intralesional endoscopy of lymphatic malformations provides insight into the morphologic properties of the lesion and is a useful supplementary tool during conventional surgical intervention and for sclerosing therapy. The technique allows a detailed assessment of these lesions and opens a broad spectrum of therapeutic options.

Lymphatic malformation of the parapharyngeal space.

Lymphatic malformations are rare benign congenital lesions. A 28-month-old girl presented with a parapharyngeal lymphatic malformation. A cystic lesion had been diagnosed at 18 weeks' gestation by ultrasonography and she had been followed up conservatively until her referral to our department. We used a transcervical approach to excise the parapharyngeal lesion and 1 year later, there was no sign of recurrence.

Newborn intraabdominal cystic lymphatic malformations.

Cystic lymphatic malformations are rare causes of abdominal masses in the newborn. Also known as mesenteric, omental, or retroperitoneal cysts, they can present in a variety of ways including, intestinal obstruction, volvulus, nonspecific abdominal pain, intracystic hemorrhage, or as an asymptomatic abdominal mass. Abdominal ultrasound scan provides a definitive diagnosis in most suspected cases. Complete resection is possible in most patients except those with extensive retroperitoneal involvement. Recurrence is unusual when complete resection is accomplished. Because most case series with complete data suggest that these entities are lymphatic malformations, the authors suggest the more specific term, cystic lymphatic malformations, be used to describe these lesions.

Two sibs with microcephaly, hygroma colli, renal dysplasia, and cutaneous syndactyly: a new lethal MCA syndrome?

We report two sibs of Turkish descent with multiple congenital anomalies including severe microcephaly, hygroma colli, cystic renal dysplasia, and bilateral cutaneous syndactyly of toes IV-V. In addition, the second sib presented with bilateral fusion of the eyelids, a bicornuate uterus, and clitoromegaly. The parents are first cousins, which suggests autosomal recessive inheritance. In reviewing previously published reports, several cases were found with cerebral, renal, and digital anomalies as the main features. Several of the additional symptoms present in the second sib were suggestive of Fraser syndrome, but the severe microcephaly in both sibs is unusual. The differential diagnosis is discussed, including the possibility of an entirely new entity in the broad spectrum of syndromes with cerebral, renal, and digital anomalies.

Neonatal teratoma presenting as hygroma colli.

We describe a neonate with a large tumour involving cranial, cervical and upper mediastinal regions, which presented clinically as hygroma colli. Radiological and pathological investigations showed characteristics of a mature teratoma and prominent cystic components within the tumour. These findings suggest that during early fetal development primary lymphatic sacs were obstructed by a teratoma leading to hygromatous dilatations of lymphatic vessels or that the abnormal proliferation of lymphatic vessels (hygroma) was part of the teratoma, developing from mesoderm as one of the three germinal layers from which teratomas originate. A third possibility is that the cystic part of the tumour originated from plexus chorioideus tissue, containing CSF. The last possibility is most probable in this patient.

[Hygroma colli in the ultrasound image as an early indication of fetal Ullrich-Turner syndrome]. / Hygroma colli im Ultraschallbild als früher Hinweis eines fetalen Ullrich-Turner-Syndroms.

Fetal chromosomal anomalies are frequently associated with malformations of the lymphatic system, which occur with a wide variability as local edema or generalized hydrops of the fetus. From January 1, 1988 to December 31, 1989 chromosomal analysis were performed in two patients, because ultrasound examination revealed large cystic septated sacs in the nuchal area and severe fetal edema. In both cases the diagnosis was: Turner's syndrome XO. As in more than a half of all cases with nuchal hygromes in ultrasound Turner's syndrome and furthermore in 25% other chromosomal anomalies are found, the value of early and subtle ultrasound examination is to be emphasized. In every case with a sonographic suspicion of an abnormal nuchal area of the fetus, specific prenatal diagnostic investigations should be performed, because of the rare, but possible event of involution of fetal cystic hygroma in ultrasound.