Diagnostic outcomes from a combined Pediatric Dermatology-Genetics clinic.

Multispecialty clinics can be exceedingly helpful for diagnostically challenging and clinically complicated patients. This study highlights the diagnostic outcomes of the multispecialty Pediatric Dermatology-Genetics clinic at Children's Mercy-Kansas City over a 5-year period.

Evaluation of Genotypic Antiviral Resistance Testing as an Alternative to Phenotypic Testing in a Patient with DOCK8 Deficiency and Severe HSV-1 Disease.

Antiviral resistance frequently complicates the treatment of herpes simplex virus (HSV) infections in immunocompromised patients. Here we present the case of an adolescent boy with dedicator of cytokinesis 8 (DOCK8) deficiency, who experienced recurrent infections with resistant HSV-1. We used both phenotypic and genotypic methodologies to characterize the resistance profile of HSV-1 in the patient and conclude that genotypic testing outperformed phenotypic testing.

Rebound Growth of Infantile Hemangiomas After Propranolol Therapy.

Background And Objectives: Propranolol is first-line therapy for problematic infantile hemangiomas (IHs). Rebound growth after propranolol discontinuation is noted in 19% to 25% of patients. Predictive factors for rebound are not completely understood and may alter the management approach.

Development and Validation of a Quality-of-Life Instrument for Infantile Hemangiomas.

Infantile hemangiomas (IH) are common tumors for which there is no validated disease-specific instrument to measure the quality of life in infants and their parents/caregivers during the critical first months of life. This study prospectively developed and validated a quality-of-life instrument for patients with IH and their parents/caregivers and correlated demographic and clinical features to the effects on the quality of life. A total of 220 parents/caregivers completed the 35-item Infantile Hemangioma Quality-of-Life (IH-QoL) instrument and provided demographic information.

Mycoplasma pneumonia--associated mucocutaneous disease in children: dilemmas in classification.

There is controversy regarding precise definitions for Stevens-Johnson syndrome (SJS) and erythema multiforme (EM) major because of overlap in clinical presentations. SJS and EM major associated with Mycoplasma pneumoniae have been reported to occur in children, but Mycoplasma is more commonly reported with SJS. We sought to further characterize Mycoplasma-associated mucocutaneous disease.

Topical treatment of ichthyoses.

Management of ichthyoses is a complex and continuously dynamic process. Primary treatments of ichthyosis are by means of topical moisturizers and topical medications. Patients and families need to have reasonable and realistic expectations when it comes to topical therapy.

Measuring the severity of infantile hemangiomas: instrument development and reliability.

Objectives: To develop instruments that measure the severity of infantile hemangiomas (Hemangioma Severity Scale [HSS]) and the complications of infantile hemangiomas for longitudinal use (Hemangioma Dynamic Complication Scale [HDCS]).

Design: Instrument development and reliability study.

Setting: Academic research.

Spinal dysraphism associated with the cutaneous lumbosacral infantile hemangioma: a neuroradiological review.

Background: Spinal dysraphism is suspected in patients with midline abnormalities, especially in those with lumbosacral cutaneous markings. A recent prospective study demonstrated that isolated cutaneous infantile hemangiomas (IH) of the lumbosacral region have one of the highest risks (relative risk of 438) of associated spinal dysraphism.

Objective: The specific types of dysraphism and radiological findings associated with cutaneous IH of the lumbosacral region have not been described in detail, to the best of our knowledge.

Diffuse infantile hepatic hemangiomas: a report of four cases successfully managed with medical therapy.

We report four cases of diffuse infantile hepatic hemangioma, a rare but potentially life-threatening subset of hepatic hemangiomas. All patients demonstrated distinctive dome-shaped red-purple cutaneous hemangiomas. Two patients responded to steroids and propranolol (one in combination with vincristine), and two responded to steroids and vincristine.

Prospective study of the frequency of hepatic hemangiomas in infants with multiple cutaneous infantile hemangiomas.

Multiple cutaneous infantile hemangiomas have been associated with hepatic hemangiomas. Screening of infants with five or more cutaneous infantile hemangiomas with abdominal ultrasound is often recommended. The aim of this study was to determine the frequency with which hepatic hemangiomas occur in infants with five or more cutaneous infantile hemangiomas compared to those with one to four cutaneous infantile hemangiomas and to characterize the clinical features of these hepatic hemangiomas.

Prospective study of spinal anomalies in children with infantile hemangiomas of the lumbosacral skin.

Objective: To prospectively evaluate a cohort of patients with infantile hemangioma in the midline lumbosacral region for spinal anomalies to determine the positive predictive value of infantile hemangioma for occult spinal anomalies and to make evidence-based recommendations for screening.

Study Design: A multicenter prospective cohort study was performed at 9 Hemangioma Investigator Group sites.

Results: Intraspinal abnormalities were detected in 21 of 41 study participants with a lumbosacral infantile hemangioma who underwent a magnetic resonance imaging evaluation.

Retrospective analysis of 32 pediatric patients with anticonvulsant hypersensitivity syndrome (ACHSS).

Objective: To review 32 pediatric patients with anticonvulsant hypersensitivity syndrome.

Design: Retrospectively, data and photographs were collected on 32 patients who had been diagnosed with anticonvulsant hypersensitivity syndrome.

Setting: The sections of dermatology at Children's Memorial Hospital in Chicago, Illinois, and Children's Mercy Hospitals and Clinics in Kansas City, Missouri.