Aleksandar M. Vlahovic

Sirolimus for the Treatment of a Massive Capillary-Lymphatico-Venous Malformation: A Case Report.

Management of patients with complex vascular anomalies (VAs) is often associated with significant morbidity and mortality because of the lack of effective treatment modalities that may lead to significant improvement of the disease and/or healing. Recently, reports of treatment of patients with complex VAs with sirolimus revealed encouraging results. Sirolimus inhibits the mammalian target of rapamycin, which acts as a master switch of numerous cellular processes. We report a successful use of sirolimus for the treatment of a patient with a complex CLVM of the trunk and the right lower extremity believed to be untreatable. Our patient had 44 hospitalizations during the 10-year period, with various unsuccessful treatments and continuous deterioration of his clinical condition, ending up in a wheelchair. His condition reversed to normal everyday activities 9 months after initiation of sirolimus therapy. We conclude that sirolimus is a very promising therapeutic option for children with complex VAs of capillary-lymphatico-venous type.

Nine toes; Mirror Foot Deformity

Mirror foot is a very rare congenital anomaly, with only a few papers presenting definitive treatment for this entity. There are limited management recommendations. Most cases are treated before walking age. In our case, there were no associated developmental defects of the leg. The child underwent complex rays resection with medial foot reconstruction. After 7.5 years of followup, definitive surgical treatment was performed with satisfactory cosmetic and functional outcome.

Benign Skin and Soft Tissue Tumors

Skin and skin-associated soft tissue tumors in pediatric population can arise de novo, and in general they can be categorized according to their cell type of origin, or they can have their origin due to errors along the pathways of embryological development. Pediatric tumors are highly varied in origin, pathophysiology, and clinical presentation, and sometimes it is difficult to distinguish benign and malignant tumors in children. Benign skin tumors can be divided in tumors of epidermal origin, epidermal nevus; tumors of dermal origin; tumors of hair folicules, pilomatrixoma; sebaceal gland tumors, nevus sebaceous; and cysts—epidermal and dermal. Benign soft tissue tumors can be divided on the base of the tissue included: benign tumors of fibrous, fat, muscle, neural, and synovial origin. Skin tumors and defects can occur during embryogenesis. These anomalies in head and neck region may have communication with central nervous system, and at the cervical region congenital anomalies are mostly presented as thyroglossal duct cyst branchial anomalies (sinus, cyst, or fistula). Infective lesions (lymphadenopathies) are common in pediatric population.

Malignant Skin and Soft Tissue Tumors

Malignant skin and soft tissue tumors are rare in pediatric population. Rhabdomyosarcoma, infantile fibrosarcoma, synovial soft tissue sarcoma, and lymphoma are the most common malignancies, while fibromatoses, dermatofibrosarcoma protuberans, and vascular tumors (kaposiform hemangioendothelioma and tufted angioma) present most common semi-malignant tumors seen in pediatric population. Rhabdomyosarcoma is the most common of the pediatric soft tissue sarcoma, mostly located in head and neck region. Infantile fibrosarcoma is the second most common childhood sarcoma involving the skin, with surgical removal as primary component of the treatment. Teratoma is rarely localized in head and neck region, and for this localization antenatal diagnosis is crucial, in order to secure the airway during the delivery. Hodgkin lymphoma is presented in most cases with asymptomatic cervical adenopathy. Dermatofibrosarcoma protuberans is characterized by high rates of local recurrence and low risk of metastasis. Langerhans cell histiocytosis (histiocytosis X) ranges from clinically very limited cutaneous disease to severe multisystem disease with clonal accumulations of Langerhans cells. Peripheral primitive neuroectodermal tumor, primary cutaneous neuroblastoma, congenital leukemia, and infantile myofibromatosis are rarely presented during childhood, with different clinical pictures, treatment options, and prognostic values.

Male Breast Reduction

Gynecomastia is defined as benign proliferation of male breast. It can be asymptomatic, with high incidence, and symptomatic which is very rare. Most frequently, the changes occur at the time of hormonal changes: infancy, adolescence, and old age. This is thought to be the result of an imbalance of estrogen action relative to androgen action at the breast tissue level. Patients usually have pseudogynecomastia which reflects accumulation of subareolar fat tissue without palpable glandular nodus. Gynecomastia is usually a self-limited condition. In some cases by eliminating the cause, one can resolve gynecomastia. Treatment options for gynecomastia are pharmacological and surgical. Conservative treatment includes antiestrogens, androgens, and aromatase inhibitors. The surgical procedures for gynecomastia include excision, conventional liposuction with or without excision, power-assisted liposuction, and ultrasound-assisted liposuction.

Microtia and Other Congenital Auricular Deformities

Ear deformities have been classified as a continuum ranging from anotia to prominent ear. Microtia literally means small ear, and it presents a congenitally small and malformed external ear. The incidence of microtia is 1 in 7000–8000 live births, and it is unilateral in 80–90% of cases. Microtia is probably multifactorial in etiology with environmental and genetic factors involved. Patients with unilateral microtia/atresia usually have normal hearing on contralateral ear. Patients with bilateral microtia/atresia should be fitted with a bone-conduction hearing aid as early as possible in life. There are several classifications of microtia. Most surgeons are familiar with Nagata classification. Treatment of microtia is surgical with two important topics: reconstruction of the delicate architectural structure of the auricle and projection of the auricle. There are three options for auricular reconstruction of microtia: autogenous reconstruction, composite autogenous/alloplastic reconstruction using an alloplastic ear framework, and prosthetic reconstruction. Other common ear anomalies are constricted ear, which is congenital ear deformity with high variety in presentation and surgical treatment, followed by cryptotia and Stahl’s ear.

Cleft Lip and Palate

Cleft lip (CL) and palate are the most common congenital craniofacial anomalies. The overall incidence of cleft lip and palate (CLP) is 1/700, with cleft lip and palate as the most common diagnosis, followed by isolated cleft palate (CP), and then isolated cleft lip. Unilateral clefts have significantly higher incidence compared to bilateral clefts. The majority of bilateral cleft lips and unilateral cleft lips are associated with a cleft palate. Males are predominant in the cleft lip and palate population. Both environmental and genetic factors have their influence in the genesis of cleft lip and palate. Cleft palate differs etiologically and embryologically from cleft lip and palate. Prenatal diagnosis of CL on a prenatal ultrasound is possible in more than 70% of cases. Clefts are typically divided into four groups: cleft of primary palate (unilateral, bilateral, total, or subtotal), cleft of secondary palate (total, subtotal, submucosal), cleft of primary and secondary palate (unilateral, bilateral, total, or subtotal), and rare facial cleft. Cleft lip and palate can be associated with a large number of syndromes. Goals of treatment include feeding counseling, surgical treatment, hearing evaluation, speech evaluation, orthodontic treatment, and additional surgical treatment. Individuals born with cleft lip and or palate require coordinated care from multidisciplinary team of different specialties.

Breast Augmentation in Children

Breast augmentation in pediatric population is not commonly performed. Indications for augmentation mammaplasty in pediatric population are breast hypoplasia (unilateral and bilateral), breast deformity in Poland’s syndrome, tuberous breasts, and failure of breast development due to a trauma. Breast surgery for cosmetic reasons in pediatric population is quite controversial. These patients require detail anamnestic and psychological evaluation, thorough physical examination, and precise measurements. Plastic surgeon or pediatric plastic surgeon performed this operation in specific circumstances with the same principles as in adults. Breast augmentation in pediatric population requires that implants do not violate normal anatomic landmarks. The type of the incision, implant selection, and implant placement has to be carefully evaluated with the patient. Pediatric patients with breast augmentation have longer inhospital staying, and recovery also takes more time compared to adults.

Breast Reconstruction in Congenital Deformities

Breast anomalies in pediatric population are common, but fortunately, vast majority of these conditions are benign. The spectrum of breast disorders in pediatric population is different from those in adults, and often different treatment options are involved. Evaluation of breast-related symptoms in children includes thorough history and physical examination, with breast sonography as in generally the primary imaging modality. There is lack of comprehensive categorization of these abnormalities. Breast anomalies in pediatric population can be roughly classified into four groups: hyperplasia (premature thelarche, juvenile hypertrophy-macromasty, polythelia, polymasty, benign tumors, malignant tumors, non-tumorous masses, gynecomasty), hypoplasia (athelia, amazia, amastia, hypomasty, Poland’s syndrome), deformation (burns, traumatic lacerations, dog bites, and iatrogenic breast bud damage by surgical procedures), and asymmetry. Each patient with any of these breast conditions requires individualized approach and treatment with maximal precautions.

Recurrent Pheochromocytomas in a Child with Familial von Hippel-Lindau Syndrome

To the Editor: von Hippel-Lindau (VHL) syndrome is a rare hereditary disease characterized by the presence of benign or malignant tumors, such are CNS hemangioblastoma, pheochromocytoma, retinal angioma, Bclear cell^ renal carcinoma, renal and pancreatic cysts [1]. VHL syndrome is inherited in autosomal dominant pattern with high penetrance, but 20 % of cases are new mutations. Pheochromocytomas have been described in 10–50 % of patients with VHL syndrome [2]. We present a case of 12-y-old boy with type 2 VHL syndrome who had successive development of bilateral adrenal pheochromocytomas, as well as extraadrenal pheochromocytomas. Symptoms were first noted at 5 y of age and included arterial hypertension of 161/110, fatigueness, sweating and headache. The diagnosis was established very quickly, as family data revealed that the boy’s father had VHL syndrome: pheochromocytomas, cerebellar hemangioblastoma and retinal angiomas. High levels of the adrenaline (52,36 μg/24 h), and noradrenaline excretion (153,11 μg/24 h) were detected in the urine, and ultrasound, CT scan and MIBG scintigraphy imaging discovered a tumor in the left adrenal gland. The proposed PET-CT was not available [3]. Genetic analysis of the patient showed presence of a germline mutation in exon 3 of the VHL gene in codon 167 (Arg 167Gln; CGG→ CAG), which was proved to be the same as his father’s. In the previous 7 y the boy had 5 operations, a total of Bde novo^ 7 adrenal and extraadrenal benign pheochromocytomas were removed, and bilateral adrenalectomy was performed. The patient received preoperative two-week alpha blocker phenoxibenzamine premedication. Some authors prefer prazosin and doxazosin as alpha blockers in preoperative premedication [4]. Cortical-sparing adrenalectomy was not feasible, but it is a dominant alternative approach for bilateral pheochromocytomas [5]. After operations the patient remained symptom-free, with normal urinary excretion of catecholamines and ultrasound, CT/MRI and MIBG exams. The recurrence of the pheochromocytoma used to be diagnosed on regular screening based on the above mentioned diagnostic procedures. Presently, the boy is feeling well, with life-long substutional therapy. The early manifestation of VHL syndrome in the index patient, frequent recurrences of pheochromocytomas Bde novo^ at new locations and the hereditary nature of the syndrome are the highlights of this letter. * Aleksandar Vlahovic aleksandarvlahovic@yahoo.com