David F. Carpentieri

Pilomatrixoma of the Head and Neck in Children

OBJECTIVE: Pilomatrixomas are benign skin neoplasms of hair follicle origin. They are one of the most common superficial masses of the head and neck excised in children. Although the entity has been well studied in the literature, few studies have been undertaken to evaluate the clinical characteristics of head and neck pilomatrixomas specifically in children. The purpose of this study was to review the clinical characteristics and management of children presenting with pilomatrixomas of the head and neck at a large tertiary care pediatric hospital. STUDY DESIGN: A retrospective chart review was performed of all patients with histologically confirmed pilomatrixoma of the head and neck excised during a 6-year period (1992–1997) at the Childrens Hospital of Philadelphia. RESULTS: Ninety-one cases of pilomatrixoma were confirmed in 86 patients. The age range was 5 months to 17 years. The median age at time of excision was 6.0 years. The most common sites of occurrence were the cheek (36%), neck (20%), periorbital region (14%), and scalp (9%). The male to female ratio was 1:1.5. Multiple lesions were found in 8.2% of patients. Surgical excision was curative in all cases. CONCLUSION: Pilomatrixoma is a cutaneous neoplasm that is one of most common causes of superficial head and neck masses in children. Although the presurgical diagnosis may be difficult in some cases, pilomatrixoma must be kept in the differential of superficial head and neck masses in children. Surgical excision is almost always curative.

Endolymphatic sac tumor in a 4-year-old boy.

Introduction: Endolymphatic sac tumors (ELST) are rare, low-grade, locally aggressive papillary neoplasms. We present a case of a 4-year-old boy with an ELST, the youngest described in the literature. Case: A boy presented with a right-sided serous otitis media and sudden-onset right facial nerve palsy. An audiogram revealed right-sided profound sensorineural hearing loss. Radiographic imaging demonstrated a 3-cm expansile lytic lesion along the posterior face of the petrous bone. Intervention/Results: The patient initially underwent a right transmastoid–infralabyrinthine biopsy. Pathologic examination revealed a papillary lesion suspicious for an ELST. Subsequently, a transtemporal–transcochlear approach with intra-and extradural resection of the tumor was performed. The facial nerve was dissected and transposed anteriorly and preserved. Histopathologic and immunohistochemical studies confirmed the ELST. At his 6-month follow up, there is no evidence of recurrence and the facial nerve function has returned to Grade II palsy. Conclusion: ELST are rare tumors of the temporal bone. This is the youngest case of ELST reported. Presentation, evaluation, and management of ELST is discussed.

Melanotic neuroectodermal tumor of infancy (MNTI) of the hard palate: presentation and management

OBJECTIVE To discuss the presentation and management of melanotic neuroectodermal tumor of infancy (MNTI) of the hard palate. METHOD Case presentation and literature review. CASE A 6-month-old girl presented with a slow growing, non-tender anterior oral hard palate mass. Radiologic imaging revealed a well-circumscribed cystic lesion containing teeth. After excision, histopathologic and electron microscopic evaluation revealed MNTI. No recurrence was seen at 12-month follow-up. CONCLUSIONS This case and a review of the literature reveal MNTI to be a rare, benign hard palate tumor, which may present as a smooth, firm, painless, slow-growing anterior palatal lesion. Imaging reveals a well-circumscribed cystic lesion. Complete excision should be curative. Management requires attention to the potential need for palatal reconstruction, orthodontic care and correction of secondary nasal deformities.

Multiple Vascular and Bowel Ruptures in an Adolescent Male with Sporadic Ehlers-Danlos Syndrome Type IV

ABSTRACT Ehlers-Danlos syndrome (EDS) type IV is a heritable disorder resulting from mutations in the COL3A1 gene that cause deficient production of type III collagen. Clinical manifestations of EDS type IV include hypermobility of small joints, excessive bruisability, thin translucent skin, poor wound healing, bowel rupture, and vascular rupture that is often fatal. A 14-year-old male without a family history of EDS died following multiple bowel and abdominal blood vessel ruptures. Even in areas apart from rupture sites, the bowel wall was thin because of diminished submucosa and muscularis propria. Similarly, the walls of blood vessels in bowel submucosa and elsewhere in the abdomen varied in thickness, and contained frayed and fragmented elastic tissue fibers. Fibroblasts cultured from the patients skin secreted reduced quantities of type III collagen that was explained by a point mutation in one copy of the COL3A1 gene. EDS type IV should be strongly suspected in any patient with otherwise unexplainable bowel and/or vessel rupture.

Pediatric submandibular triangle masses: a fifteen-year experience.

The purpose of this study was to evaluate the surgical results of pediatric submandibular triangle masses, with specific attention to neoplastic processes.

Significance of Lymphoid Follicles and Aggregates in Gastric Mucosa of Children

ABSTRACT This study was designed to evaluate the significance of gastric lymphoid follicles (LF) and aggregates (LA) in children with and without Helicobacter pylori (HP) infection. All 605 antrum biopsies performed during 1994 were reviewed and classified according to the presence or absence of inflammation, LF, or LA. HP was searched with a DiffQuik stain in all biopsies showing gastritis, LF, or LA. Gastritis was diagnosed in 80 biopsies (16 with LF, 18 with LA and 46 without LA or LF). Identification of HP in these biopsies was as follows: (a) cases with LF: 12/16; (b) cases with LA: 3/18; (c) cases without LF or LA: 8/46. The biopsies without gastritis had a higher frequency of LA (65/525) than of LF (2/525). HP was not identified in any case without gastritis. The presence of LF with histologic gastritis had the strongest correlation with HP (R = 0.5, p < 0.00001). LF with gastritis had a positive predictive value of 75% for HP and the absence of LF had a negative predictive value of 82.8% (sensitivity 52%; specificity 92%). LA with gastritis had no significant correlation with HP. From these results we conclude that lymphoid follicles should be distinguished from lymphoid aggregates. Lymphoid follicles can rarely be present in an otherwise normal gastric mucosa; however, they are more frequently found in cases of gastritis and are strongly associated with HP infection. Lymphoid aggregates are not significantly associated with HP infection and may be a component of the normal gastric lymphoid tissue.

Subdiaphragmatic Pulmonary Sequestration: A Case Report With Review of the Literature

Pulmonary sequestration is defined as a mass of abnormal lung tissue that does not communicate with the tracheobronchial tree through a normally located bronchus. Most authors classify these sequestrations either as extralobar if the mass is covered by its own pleural investment or intralobar if incorporated within the normal lung without a separate pleural membrane. Sequestrations may communicate with the gastrointestinal tract and are also supplied by an anomalous systemic artery. The vast majority of the extralobar lesions are present within the thorax, most frequently between the left lower lobe and the diaphragm and rarely below it. Embryologically, these lesions are best categorized as a form of foregut malformation. Associated anomalies are seen in ;65% of the patients with extralobar sequestrations (ELS) and rarely in patients with intralobar sequestrations. The anomalies usually include diaphragmatic hernias and congenital cystic adenomatoid malformation (CCAM). Bronchogenic cysts, teratomas, neuroblastoma, intestinal duplications cysts, adrenal hemorrhage, and renal dysplasia should be considered among the more common differential diagnoses of subdiaphragmatic lesions in the perinatal period.

Intestinal Spirochetosis in Children: Five New Cases and a 20-Year Review of the Literature

Intestinal spirochetosis (IS) is an unusual infection in children, one with no standard therapeutic options. This article reports the findings on 5 new cases in conjunction with a 20-year review of the pediatric literature. The diagnosis of IS in children requires a high degree of suspicion by the physician, as many cases present with abdominal pain, chronic diarrhea, and/or hematochezia associated with a normal endoscopic examination. Silver stains (Dieterle or Whartin-Starry) are the preferred confirmatory stains on tissue sections. Giemsa (Diff-Quik) and periodic acid–Schiff stains may also be of value. Current literature favors the use of metronidazole in adult patients with IS, yet little information is available regarding treatment options in pediatric cases. This review indicates that a macrolide antibiotic with or without metronidazole may represent the best therapeutic choice for children. Further investigations are needed to determine the correlation between IS and coexisting gastrointestinal diseases and/or immunodeficiencies.

Treacher Collins syndrome with novel ophthalmic findings and visceral anomalies

Treacher Collins syndrome (TCS) (mandibulofacial dysostosis (MFD) or zygoauromandibular dysplasia) is one of a group of congenital malformation syndromes that have in common maldevelopment of the first and second branchial arches.1 Clinical features typically include hypoplasia of the mandible and zygoma; a complex variety of ear abnormalities including malformed pinnae, atresia of the external auditory canals and anomalies of the middle ear ossicles; cleft palate; receding chin; and sinus and choanal atresia.2 We present a pair of twins that possessed not only classic features of TCS but also unusual visceral and previously unreported ophthalmic pathology. A 32 year old, gravida 3 para 2-0-0-2 woman underwent elective abortion after fetal death and major fetal malformations were diagnosed during pregnancy. Ultrasound examination at 20 weeks of gestation displayed monozygotic, diamniotic twins. Fetus A, noted alive at 16 weeks, was dead and surrounded by minimal amniotic fluid. Fetus B was alive with several anomalies including bilateral infraorbital cystic masses, protruding tongue, and …

Colonic inflammation found at diagnosis of juvenile retention polyps in pediatric patients

OBJECTIVE:The finding of colonic inflammation concurrently with a juvenile retention polyp (JRP) may have prognostic value. However, the significance of abnormal mucosal histology with JRP has not been evaluated. We evaluated the significance of mucosal histology at the time of JRP removal with respect to future development of inflammatory bowel disease (IBD) and polyp recurrence.METHODS:The medical records of patients who had an endoscopic polypectomy performed at the Childrens Hospital of Philadelphia (CHOP) from 1/1/87 through 4/30/98 were retrospectively reviewed.RESULTS:JRP was histologically identified in 96 patients. A total of 54 patients had colonic mucosal biopsies: 30 (55.6%) had normal histology and 24 (44.4%) had colitis. Of the 24 patients with colitis, 14 patients (58.3%) had inflammation at the polyp site. Twelve of these patients had additional inflammation elsewhere in the colon. Nine (37.5%) had inflammation elsewhere in the colon; however, biopsies around the polyp site were not obtained. One patient with inflammation did not have the location of the polyp documented. Four patients (16.7%) had IBD at the time of polypectomy; two were diagnosed prior and two coincident with JRP. None have subsequently been diagnosed with IBD. There was no difference in polyp recurrence between those with or without inflammation (16.7% [4/24] vs 10.0% [3/30]). The mean follow-up period was 72.4 months (range, 5–142 months).CONCLUSIONS:In our experience, histological mucosal inflammation is a common finding with JRP. This inflammation may be a precursor for the development of JRP but has no predictive value for polyp recurrence. This colitis does not seem to be associated with IBD.