Faculty Bibliography

"Lymphangiomatosis" is a general term for excessive growth of aberrant lymphatic vessels. The impact of lymphangiomatosis can be devastating due to osteolysis and/or multi-organ involvement. The disorders are heterogeneous, and treatment is dependent upon disease location and symptoms. Most reports are single cases or small case series, predominantly in the orthopedic and radiologic literature. Basic research focused on lymphatic disorders may translate into new therapies for these disorders.

BACKGROUND:: Large hemangiomas of the scalp, though uncommon, present unique challenges to the reconstructive surgeon. If not treated early, these lesions can result in large areas of alopecia, distortion of the hairline, or deformation of the ear. Given these potential complications and the relative pliability and redundancy of the infant scalp before 4 months of age, the authors propose early surgical excision. METHODS:: A retrospective review of the senior author's (B.M.Z.) patient records was performed; over a period of 4 years, six infants were identified who underwent resection of a large scalp hemangioma. The surgical planning and execution of each case and follow-up are detailed. RESULTS:: All six hemangiomas were excised completely. In five cases, the excisions were performed in one stage at or before 4 months of age. In a sixth case, a tissue expander was placed before excision and closure in an 18-month-old infant. In three cases, significant ear malposition was corrected by removal of the deforming mass. There were no complications. CONCLUSIONS:: The authors have demonstrated that by taking advantage of the greater elasticity of the infant scalp, large hemangiomas of the scalp can be aggressively and successfully treated with surgical intervention, often in one operation. Beyond the usual indications, early surgical excision of scalp hemangiomas may be advantageous and warranted to prevent the development of large alopecic areas or the permanent distortion of the hairline and aural anatomy

Rapidly involuting congenital haemangioma (RICH) may present with thrombocytopenia, low fibrinogen and elevated fibrin degradation products and D-dimers. Such complications have rarely been reported. We wished to define the clinical characteristics of the thrombocytopenia and coagulopathy associated with RICH, to emphasize the transient nature of this haematological complication and to distinguish these abnormalities from true Kasabach-Merritt phenomenon (KMP). We present a case series of seven patients with large RICH who presented with thrombocytopenia and coagulopathy during the first week of life. Clinical and haematological characteristics were recorded retrospectively. Two of the patients were treated with embolization due to early signs of high-output cardiac failure; four patients received oral corticosteroids in the range of 2 mg kg(-1) daily; one patient did not receive any treatment in the neonatal period, although the tumour was excised at 6 months of age. Two patients with platelet counts lower than 10 x 10(9) L(-1) received a platelet transfusion. There were no bleeding complications and only one patient presented with petechiae. In all seven patients, platelet counts started to increase at > 2 weeks of age and the coagulopathy resolved. We conclude that RICH may present with thrombocytopenia and coagulopathy similar to mild KMP early in the neonatal period. However, in contrast to true KMP, these abnormal laboratory findings are self-limited and are usually not complicated by bleeding problems

We attempted to identify the association of multifocal hemangiomas, specifically hepatic hemangiomatosis, in twins. We retrospectively reviewed our database of infants with hemangiomas, identifying those twins who both had hemangiomas, and we report two cases of twins with hemangiomatosis, including hepatic hemangiomas. Of 39 sets of twins in our Hemangioma Program, both twins had hemangiomas in seven twin sets. Of these seven sets, only the two reported in this article had hemangiomatosis. There were also five sets of triplets, with one set having two siblings affected by hemangiomas. We concluded that although hemangiomas in multiple gestation infants is well known, hemangiomatosis including hepatic hemangiomatosis is unusual

ABSTRACT Consanguinity allows for the expression of rare genetic disorders. We present the first case of an infant, born to consanguineous parents, with congenital lamellar ichthyosis, congenital lymphatic malformation, congenital hypothyroidism, bilateral megaureter, benign external hydrocephalus, and syrinx of the spinal cord. We review the disorders, examine their genetic causes, and explore the genetic connection among them

The articles in this issue underscore the variety of innovative programs and techniques essential to a pediatric and young adult day hospital setting. While patients at the Stephen D. Hassenfeld Children's Center for Cancer and Blood Disorders (SDHCC) at New York University (NYU) Langone Medical Center have hematologic or oncologic disorders, the facility design, programming, and philosophies discussed can be universally applied to any patient

'Vascular anomalies' represents a spectrum of vascular lesions, of unclear etiology and often with unpredictable behavior. Patients with vascular anomalies represent a unique population, in that they have focal aberrations of vascular development (in vascular malformations) or vascular proliferation (in hemangiomas). The etiology of these disorders is unclear, and likely represents a multifactorial process. Vascular anomalies are an attractive model for the study of human disorders of vasculogenesis (development of the vasculature) and angiogenesis (new vessel growth from existing vessels)