Retrospective, single-center case series of neonatal lupus.

BACKGROUND: Neonatal lupus erythematosus (NLE) results from cross-placental transfer of maternal autoantibodies. Neonates can present with cardiac, cutaneous, hepatobiliary, hematologic, and neurologic complications from antibody-mediated organ toxicity. Scant evidence exists on long-term clinical characteristics and outcomes of patients with neonatal lupus. OBJECTIVES: To characterize the autoantibody profile, laboratory, and clinical features of patients with NLE. MATERIALS/METHODS: This was a single-site retrospective cohort study of patients at the Children's Hospital of Philadelphia with NLE. Data were collected on clinical, laboratory, and autoantibody profile at time of presentation, as well as long-term complications. RESULTS: Thirteen patients were included. Congenital cardiac findings were reported in 3 patients, with 1 having persistent cardiac sequelae. Cardiac manifestations were correlated with anti-Ro/SSA positivity in our cohort. Two patients had neurologic findings, with good long-term outcomes. Cutaneous findings were present in all patients, and many resolved without topical steroid treatment. Hematologic and hepatobiliary findings were common, but uncomplicated, with complete resolution by 6 months after initial presentation in all. Maternal rheumatologic disease, treatment, and race were not associated with systemic manifestations. CONCLUSIONS: Patients born to mothers with positive anti-Ro/SSA titers may benefit from routine cardiac monitoring in utero and at birth. Routine EEG or head ultrasound monitoring in patients who are autoantibody positive for NLE may be unnecessary. Information regarding long-term outcomes in NLE can be used to guide familial counseling and the use of serial laboratory testing.

Plexiform fibrohistiocytic tumor on the chest of a 5-year-old child and review of the literature.

Plexiform fibrohistiocytic tumor (PFT) is a rare neoplasm of mesenchymal origin that can be identified by its propensity for children and adolescents combined with a characteristic histologic arrangement of histiocytes and osteoclast-like giant cells whorled within tumor islands. A 5-year-old female presented with a raised, intermittently tender, and slowly enlarging tumor on her chest, which was histologically confirmed to be a PFT. We present this case along with a comprehensive review of PFT cases reported in the literature to describe the demographic, histologic, and rarely metastatic behavior of this entity. It is important to include PFT on the differential diagnosis of an enlarging tumor in the pediatric population.

Generalized basaloid follicular hamartoma syndrome versus Gorlin syndrome: A diagnostic challenge.

Basaloid follicular hamartoma is a relatively rare benign neoplasm of follicular origin that can be mistaken histologically for basal cell carcinoma, but hereditary forms of basaloid follicular hamartoma are associated with nevoid basal cell carcinoma syndrome, or Gorlin syndrome. The pathophysiology of basaloid follicular hamartoma development involves mutations in the patched gene, which is also causative in nevoid basal cell carcinoma syndrome. We present a mother and daughter with basaloid follicular hamartomas, with genetic testing confirming patched gene mutation in the daughter.

A Novel VPS33B Mutation in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome.

We report a case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome in a girl with a novel VPS33B mutation. To our knowledge, this is the first reported case of ARC syndrome in the United States.

Scalp Infantile Hemangioma Complicated by Life-Threatening Bleeding.

We report on an 8-month-old girl with an ulcerated occipital infantile hemangioma resulting in significant hemorrhage. The hemangioma responded rapidly to systemic propranolol and prednisolone, and we believe that describing her atypical clinical course would be helpful for others managing complicated scalp hemangiomas.

Emergency department utilization of pediatric dermatology (PD) consultations.

BACKGROUND: There are few published data about pediatric dermatology (PD) consultations in the pediatric emergency department (PED). OBJECTIVE: We profiled PD consultations to determine patterns of dermatology utilization by the PED. METHODS: We reviewed electronic medical records of 347 PD consultations from the PED over a 36-month period from January 2011 to December 2013. We recorded patient age and gender; PED diagnosis; PD diagnosis; skin biopsy, if needed, with histopathology report; and outpatient PD follow-up. RESULTS: Patient age ranged from 3 days to 18 years with the majority (54.8%) of consultations for patients aged 0 days to 5 years. The most common diagnostic categories were infections and inflammatory skin disorders. Atopic dermatitis was the most common individual diagnosis. In all, 48.1% of patients had PD outpatient clinic follow-up. The rate of diagnostic agreement between the pediatric emergency medicine and PD provider was 58%. LIMITATIONS: Use of electronic medical records, retrospective study design, and population based at a tertiary-care children's hospital represent potential limitations. CONCLUSIONS: PD providers contribute to patient care in the PED. Dermatology education in the PED should include the more commonly encountered disorders identified in this study, including infectious diseases and atopic dermatitis.