Discussion
LMs can occur at any age, 65% are seen at birth, and 80% by 1 year[3] .LMs are rarely located in the female genital
tract.To the best of our knowledge, there are only 14 reports of the
primary lymphatic malformations related to perineum worldwide in
children[4-17] (Table 1). Of these, most lesions
involve the labia, only 3 patients had lesions involving the
vagina[10,12,15]. A case of a 28-year-old female
was reported being diagnosed as chylocolporrhea associated with primary
lymphangiectasia, who presented with increased vaginal discharge since
puberty[10].Another case was a Chinese female who
presented with increased vaginal discharges since 3 years old with
mucosal lesions in perineum, while the diagnose of was not made until 21
years old[15].Recently, Tang et al. described a
12-year-old girl with intermittent vaginal discharge for 10 years,while
the main symptoms related to gastrointestinal tract due to intestinal
lymphangiectasia with protein-losing enteropathy, and finally diagnosed
as generalized lymphatic anomaly[12].Here,we
reported the first Chinese case of primary vaginal and pelvic LMs who
was diagnosed in childhood.
In this article,the patient was characterized as increased vaginal
discharge and a large amount of white granular protrusions in the
hymen.According to literature review and clinical findings of this case,
almost all patients of primary vaginal LMs had chronic increased vaginal
discharge or combined mucosal lesions in
perineum[10,12,15].This has great significance in
clinical practice–for children with similar chief complaints and
perineal physical examination findings, the diagnose of LMs should be
considered.
The non-specific clinical picture, combined with the difficulties of
diagnosis verification, lead to a long diagnostic period ranging from 2
to 40 years based on the literature review.Only 7 cases were reported
with clinical symptoms presenting before the age of
10[6,8,9,12,14-16].In our case, there was a 4-year
interval from the manifestation to the hospitalization in a specialized
department where the diagnosis was verified.
As for diagnosis, most were made by pathology without MRI or CT
examination in the earlier reported
cases[4-9,13,16].With the progress of imaging
technology, MRI was performed in most cases reported recently,which
showed that lesions involved pelvic cavity, retroperitoneum, groin,
spinal muscle, buttocks, uterus, rectovaginal septum, vaginal
wall,beside the superficial part of the
perineum[10,12,15].Therefore, it is speculated
that the previously reported cases whose manifestations limited to the
labia, may had the probability of missed diagnosis.According to
recommendations from the International Society for the Study of Vascular
Anomalies in 2015,ultrasound and MRI are the first-line imaging
techniques for identifying, characterizing, and evaluating the anatomic
extent of vascular malformations[18].In our
case,MRI provided direct evidence to support the diagnosis of LMs.
Due to the development of technology and the new sclerosing agents,
sclerotherapy has become the mainstream treatment of macrocystic and
mixed LMs[2].However,as to microcystic type,the
effect of sclerotherapy was not
desirable[19].Recent progress in germline and
somatic mutations that leading to activate known intracellular signaling
pathways in LMs has advanced pharmacological interventions for the
disease. mTOR Inhibitor Rapamycin (Sirolimus) could reduce the
proliferation,as well as regulate the proliferation, migration and
adhesion of lymphatic endothelial cells, so was tried to treat
LMs[20].Several literatures reported its
effectiveness in the treatment of complex vascular malformations,
especially in diffuse microcystic LMs [21,22].The
efficacy and safety of topical Sirolimus in the treatment of superficial
vascular malformations in children has also been
reported[23].
According to existing publications, surgical resection was usually
utilized in early reported cases[18,7,8]. Laser
therapy was used in 1 case[8].Follow-up time for
the cases was usually very short or no follow-up was mentioned.In our
case,to achieve maximum control of the lesion and to prevent recurrence,
we decided to utilize sclerotherapy combing with oral Sirolimus.The
clinical symptoms were well controlled after 14 months of
follow-up.Pelvic MRI also indicated a reduction in lesions.This is the
first case of primary vaginal and pelvic LMs treated with Bleomycin
sclerotherapy combing with oral Sirolimus in children. The short-term
effect is desirable without obvious adverse reactions.The proper dose of
Sirolimus was very important to the disease control. Further studies
with large sample size, multi-center, and long-term clinical follow-up
were required to explore optimal treatment options.
FIGURE 1┃ (A) Numerous white granular projections in the hymen
at admission. (B)Sporadic granular projections in the hymen in 8
month-follow up after treatment.
FIGURE2┃ MRI Manifestations of the patient. (A)At admission:
Multiple lamellar and corp-like abnormal signals around bilateral iliac
vessels in the pelvic cavity, uterus, vagina and rectum, bilateral
inguinal lymph nodes, and bilateral lateral iliac wings. (B)8 month
follow-up after treatment: lesions were reduced than before, and no
vaginal involvement was observed.(C)14 month follow-up after
treatment:MRI manifestation was stable.
TABLE 1┃ Reported cases of primary lymphatic malformations of
perineum worldwide onset during childhood.