Multimodal Therapy Including Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy Can Result in Long-term Disease-free Survival in Pediatric Desmoplastic Small Round Cell Tumor With Extraperitoneal Disease.

Desmoplastic small round cell tumor is a rare sarcoma with 5-year overall survival of 15%. An 8-year-old female presented with diffuse abdominal/pelvic desmoplastic small round cell tumor including numerous liver metastasis. She underwent neoadjuvant chemotherapy followed by cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC). Residual disease was found shortly after CRS/HIPEC which was resected, followed by whole abdomen/pelvic radiation and autologous hematopoietic cell transplant. Previous papers have reported dismal survival in patients with liver metastasis and residual disease arguing against CRS/HIPEC. Our patient remains disease-free over 6 years after completing therapy indicating long-term survival is achievable with aggressive multimodal therapy.

E-cigarette, or vaping, product use-associated lung injury in adolescents: a review of imaging features.

BACKGROUND: There has been a recent increase in recognition of lung disease related to the use of electronic cigarettes (called "vaping"). These patients present with acute respiratory illness following exposure to vaporized cannabis or nicotine products and sometimes require hospitalization and intensive care. We describe the imaging findings of this disease entity in the pediatric population. OBJECTIVE: To describe the radiologic findings of lung injury associated with electronic cigarette use (vaping) in the adolescent pediatric population. MATERIALS AND METHODS: We identified all adolescents with acute respiratory illness and a history of electronic cigarette use who presented at our institution within a 3-month period (June 2019 through August 2019). We excluded adolescents with potential intercurrent pulmonary disease. We reviewed the charts for symptomatology and laboratory and pathology data. In addition, we reviewed the chest radiographs and chest CTs of these adolescents. RESULTS: The review group consisted of 12 teenage pediatric patients (10 boys and 2 girls; mean age 16.9 years, range 16.0-17.7 years) with acute respiratory illness found to have a temporal association with electronic cigarette use for cannabis products, nicotine, or both. Other etiologies for illness in these adolescents had been excluded by clinical and laboratory evaluation. All of the adolescents were admitted to the hospital for treatment. The clinical presentations included dyspnea, abdominal pain and constitutional symptoms. Pulmonary function testing that was performed in all patients during admission or follow-up demonstrated reduced diffusion capacity in 4/12 (33%), an obstructive ventilatory pattern in 4/12 (33%), a restrictive pattern in 1/12 (8%), and a mixed obstructive and restrictive pattern in 2/12 (17%) adolescents. Bronchoalveolar lavage studies, performed in 9 of the 12 adolescents, revealed inflammatory cells and lipid-laden macrophages. All of the patients underwent CT of the chest; the findings were notable for centrilobular ground-glass nodules (11/12; 92%) and confluent ground-glass opacities (12/12; 100%), with frequent subpleural sparing (9/12; 75%). Additionally, 6/12 (50%) adolescents demonstrated small pleural effusions; 6/12 (50%) had mild bronchial wall thickening; 9/12 (75%) had enlarged hilar or mediastinal lymph nodes; and 2/12 (17%) had a small pericardial effusion. CONCLUSION: As seen in our teenage population, e-cigarette, or vaping, product use-associated lung injury (EVALI) is characterized by centrilobular ground-glass nodules and ground-glass opacities with subpleural sparing. The imaging findings are most consistent with acute lung injury resulting from toxic inhalation. Because adolescent pediatric patients might not be forthcoming with their history of electronic cigarette use, it is important for the pediatric radiologist to be aware of the imaging patterns of this disease.

Complications of percutaneous gastrostomy and gastrojejunostomy tubes in children.

Percutaneous feeding tubes are generally considered a safe option for enteral feeding and are widely used in children who require long-term nutritional support. However, complications are not infrequent and can range from bothersome to life-threatening. Radiologists should be familiar with the imaging appearances of potential complications for optimal patient care. In this review, we discuss radiologic appearances of common complications and less frequent but serious complications related to percutaneous feeding tubes. Additionally, as fluoroscopic feeding tube evaluation is often requested as the initial imaging study, we also discuss the fluoroscopic appearances of some uncommon complications.

Langerhans cell histiocytosis of the digestive tract identified on an upper gastrointestinal examination.

Langerhans cell histiocytosis (LCH) with involvement of the gastrointestinal tract is rare and typically identified in patients with systemic disease. We describe a 16-month-old girl who initially presented with bilious vomiting, failure to thrive and a rash. An upper gastrointestinal (GI) examination revealed loss of normal mucosal fold pattern and luminal narrowing within the duodenum, prompting endoscopic biopsy. Langerhans cell histiocytosis of the digestive tract was confirmed by histopathology. A skeletal survey and skin biopsy identified other systemic lesions. Although uncommon, it is important to consider LCH in the differential diagnosis for gastrointestinal symptoms of unclear origin, especially when seen with concurrent rash. Findings of gastrointestinal involvement on upper GI examination include loss of normal mucosal fold pattern and luminal narrowing in the few published case reports.

Acute inpatient presentation of kwashiorkor: not just a diagnosis of the developing world.

We present the case of an infant with presumed Stevens-Johnson syndrome. Through a history, physical, and histopathology, we were able to diagnose the patient with kwashiorkor. Physicians should be aware of this disorder, which is commonly thought of as a developing world problem, because it is increasing in incidence in industrialized nations because of changing dietary habits.

Spiny keratoderma.

We present a case of a 48-year-old man with an approximately 30-year history of spiny projections on the palms, which were histopathologically consistent with spiny keratoderma. Spiny keratoderma is a rare entity of unknown etiology that has been described with both hereditary and acquired variants. The hereditary form, which is most likely the diagnosis in our patient, manifests at a younger age and is benign. The acquired variant, which presents in older adults, has been associated with a variety of systemic diseases and malignant conditions. In patients suspected of having acquired spiny keratoderma, an evaluation for malignant conditions may be warranted.

Primary localized cutaneous amyloidosis.

A 61-year-old man presented for evaluation of a bruise-like lesion of the right knee. He was found to have an ill-defined, light brown patch with focal areas of dark red and brown. The histopathologic diagnosis was consistent with amyloidosis. Further subtyping showed that the amyloid protein was AL (κ). A systemic evaluation failed to show internal involvement. Amyloidosis comprises a spectrum of diseases, which range from systemic to localized cutaneous types, and is characterized by the extracellular deposition of amyloidosis protein as beta-pleated sheets. The forms of amyloidosis are differentiated by the specific types of protein-derived amyloidosis fibers. Both nodular and primary systemic amyloidosis can present as nodules on the skin owing to deposition of AL type amyloid protein. Primary systemic amyloidosis, which carries a poorer prognosis than does nodular amyloidosis, also may give rise to ecchymoses and many other cutaneous and extracutaneous findings. Histopathologic features are similar in both cases and involve the deposition of amorphous, eosinophilic material in the dermis. Nodular amyloidosis may progress to primary systemic disease in up to 50% of cases. Because our patient had no systemic involvement and the lesions did not appear nodular in nature, the patient was given a diagnosis of primary localized AL cutaneous amyloidosis. Routine follow-up for this patient is necessary to detect any potential disease progression.

Lichen sclerosus et atrophicus.

Morphea and lichen sclerosus et atrophicus (LSA) have similar clinical presentations. Reports of patients with overlapping clinical and histopathologic features of both conditions have led some to speculate that they may represent different presentations along the same disease spectrum. It has been postulated that there is a common etiologic agent, which may involve autoimmunity, response to trauma, or infection. The link between Borrelia infection and both morphea and LSA has been widely studied but remains controversial. We present a case of a patient with lesions characterized by overlapping features of morphea and LSA with rapid decrease in joint mobility.

Scleredema diabeticorum.

We present a case of scleredema with a leonine facies in a 56-year-old man with a history of poorly controlled diabetes mellitus. The patient initially presented with erythematous, edematous papules and plaques on the face, neck, and upper back.

Muckle-Wells treatment with anakinra.

A 35-year-old man initially was referred for management of recalcitrant urticaria. Owing to his long history of arthritis and sensorineural hearing loss, genetic testing was performed. The test showed a D305N heterozygous mutation in the NLRP3 gene, which is consistent with the diagnosis of Muckle-Wells syndrome. We discussed the rationales behind the use of the interleukin-1 antagonist anakinra in this autoinflammatory disorder.

Hydroxycholoroquine-induced hyperpigmentation.

A 57-year-old woman with systemic lupus erythematosus and Sjögren syndrome presented with blue-grey hyperpigmentation of the face, upper back, and dorsal aspects of the feet after seven years of therapy with hydroxychloroquine. We present an unusual case of drug-induced hyperpigmentation.

Livedo reticularis.

Livedo reticularis (LR) is a net-like, violaceous, hyperpigmented pattern on the skin that reflects an underlying change in cutaneous blood flow. The causes of LR are many and most commonly include connective tissue diseases, vasculitis, hypercoagulability, and embolic events. We describe a 49-year-old man who presented with painful LR and ulcers on the lower extremities as a manifestation of chronic natural killer cell leukemia (CNKL). There have been only a few cases previously reported in the literature. We report an additional case of a patient with both LR and CNKL and suggest a possible mechanism that explains this association.

Necrolytic acral erythema.

Necrolytic acral erythema is a rare, cutaneous manifestation of hepatitis C virus infection that is characterized by erythematous, violaceous or dusky papules, blisters, and/or erosions in the early stages and by well-demarcated, hyperkeratotic, targetoid plaques with a peripheral rim of macular erythema, secondary lichenification and hyperpigmentation, and overlying fine micaceous or necrotic-appearing scale in the later stages. Because most topical modalities prove ineffective, treatment of the underlying viral infection or therapeutic zinc supplementation are required for clinical improvement.

Fluoroscopy-associated radiation dermatitis.

We present a 67-year-old man with an ulcerated, indurated plaque on the right mid back with a presumed diagnosis of morphea that was complicated by an allergic contact dermatitis. Further clinical and histopathologic data elucidated the diagnosis of fluoroscopy-induced radiation dermatitis. We present a brief review of the common locations, clinical characteristics, pathophysiology, and management options for fluoroscopy-induced radiation dermatitis.

Syringocystadenoma.

We present a case of a 35-year-old woman with a yellow, verrucous, and itchy plaque on her scalp. Within this plaque, there was an erythematous, bleeding papule. Histopathologic findings were compatible with a diagnosis of syringocystadenoma papilliferum within a nevus sebaceous. We present a brief review of the natural history of nevus sebaceus, its pathogenesis, and management.

Granulomatous dermatitis related to silicone implant.

Silicone in liquid and gel implantation may induce granuloma formation and migration. Although there are many complications associated with solid silicone implantation, there have been no published reports of distant granuloma formation. We present a case of a woman with clinical and serologic findings that are consistent with systemic lupus erythematosus and a histopathologic diagnosis of foreign body granulomatous dermatitis 20 years after solid silicone nasal implantation. We review the literature on silicone granulomas and their treatment and speculate on the potential etiologies of a challenging case presentation.

Pemphigoid gestationis.

We present a 21-year-old primigravida woman with a several-week history of pruritic, edematous, targetoid plaques that appeared initially on the abdomen, flanks, and legs and that progressed to involve the inner aspects of the upper arms and lateral aspects of the chest. The histopathologic findings showed perivascular and interstitial dermatitis with eosinophils and vacuolar changes with linear C3 deposition at the basement-membrane zone on direct immunofluorescence study. A diagnosis of pemphigoid gestationis was made. Pemphigoid gestationis is a rare, bullous dermatosis of pregnancy that may be associated with prematurity and small-for-gestational age birth weights. The diagnosis is often made with direct immunofluorescence studies of perilesional skin. Oral glucocorticoids remain the gold standard of therapy in moderate-to-severe cases. The edematous papules and plaques of pemphigoid gestationis may be particularly difficult to distinguish from polymorphic eruption of pregnancy; therefore, immunofluorescence studies are prudent. Prompt recognition and appropriate management may reduce morbidity of this disease, which often recurs with subsequent pregnancies.

Nonmalignant cutaneous findings associated with vemurafenib use in patients with metastatic melanoma.

Nonmalignant cutaneous findings associated with the use of vemurafenib have only recently been described in the literature. Patients receiving vemurafenib have exhibited cutaneous reactions including prominent follicular plugging, hand-foot skin reaction, exuberant seborrheic dermatitis-like hyperkeratosis of the face, keratosis pilaris, and diffuse spiny follicular hyperkeratosis. Many of these nonmalignant cutaneous findings are associated with abnormal follicular keratinization thought to be secondary to abnormal signaling of the mitogen-activated protein kinase pathway that occurs with the use of BRAF inhibitors. Whether underlying Ras mutations affect this abnormal signaling as in malignant lesions is still unknown. Different therapeutic options exist for these patients that may result in significant improvement in some of these nonmalignant cutaneous findings. Conservative treatment should focus on topical therapies such as topical retinoids or topical steroids. However, systemic therapies such as concomitant oral retinoids or MEK inhibitors should be considered for more severe or refractory cutaneous findings.

Update on Clinically Relevant Genetic Testing in Pediatric Dermatology.

Clinical genetic testing enables the detection of specific gene mutations and variants that predispose individuals and their family members to disease. In recent years, tremendous strides have been made in the variety of clinically useful tests. Targeted testing for specific mutations that cause well-known syndromes enables the efficient diagnosis of genetic diseases with cutaneous manifestations. Testing for specific genes, however, may not always reveal a diagnosis. Expanded options are available. This review outlines the major types of available technology with a focus on those tests most useful for pediatric dermatologists.

Gastric-Type Enteric Duplication Cyst Communicating with an Accessory Pancreatic Duct.

Enteric duplication cysts are rare congenital anomalies defined by the location along the gastrointestinal tract from which they communicate as well as the epithelial lining they contain. Enteric duplication cysts in communication with the pancreas are an even rarer subset that are often difficult to diagnose due to nonspecific presenting symptoms. In a pediatric patient with a history of recurrent pancreatitis episodes, a pancreatic duplication should be on the differential. High clinical suspicion and specific imaging characteristics can aid in the diagnosis. The management of pancreatic duplication cysts requires surgical excision or drainage procedures to alleviate symptoms and prevent associated complications such as recurrent pancreatitis, bleeding, bowel obstruction, or malignancy. Here we present a case of a gastric duplication cyst in communication with an accessory pancreatic lobe with special focus on the preoperative workup, intraoperative findings, and histopathologic examination. [Pediatr Ann. 2022;51(8):e324-e327.].