Phenotypic Spectrum of GNA11 R183C Mosaicism.

Background: Many vascular anomalies harbor postzygotic somatic variants in GNAQ and GNA11; however, the phenotype of specific G-protein variants has not been well described. We report the clinical characteristics of 17 patients with a GNA11 R183C variant.

Methods: This case series is derived from a multinational cohort of vascular anomaly patients whose pathogenic mutations were identified using high-depth next generation sequencing.

Multicenter Study of Long-Term Outcomes and Quality of Life in PHACE Syndrome after Age 10.

Objective: To characterize long-term outcomes of PHACE syndrome.

Study Design: Multicenter study with cross-sectional interviews and chart review of individuals with definite PHACE syndrome ≥10 years of age. Data from charts were collected across multiple PHACE-related topics.

Early-onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11.

Background And Objectives: Cutaneous capillary malformations (CMs) describe a group of vascular birthmarks with heterogeneous presentations. CMs may present as an isolated finding or with other associations, including glaucoma and leptomeningeal angiomatosis (i.e.

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.

Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findings.

Holocarboxylase deficiency (HLCSD) is caused by biallelic pathogenic variants in HLCS and is associated with poor feeding, emesis, lethargy, seizures, life-threatening metabolic acidosis, and hyperammonemia. Skin involvement in HLCSD is typically described as scaly, erythrodermic, seborrhea-like, or ichthyosiform, but there is a paucity of reports. We report three patients, including two siblings, with HLCSD and significant cutaneous manifestations including ichthyosiform dermatitis and a presentation with features of annular pustular psoriasis.

Limited utility of repeated vital sign monitoring during initiation of oral propranolol for complicated infantile hemangioma.

Background: Initial propranolol recommendations for infantile hemangioma published in 2013 were intended as provisional best practices to be updated as evidence-based data emerged.

Methods: A retrospective multicenter study was performed to evaluate utility of prolonged monitoring after first propranolol dose and escalation(s). Inclusion criteria included diagnosis of hemangioma requiring propranolol of greater than or equal to 0.

Evaluating the Safety of Oral Propranolol Therapy in Patients With PHACE Syndrome.

Importance: Oral propranolol is widely considered to be first-line therapy for complicated infantile hemangioma, but its use in patients with PHACE (posterior fossa malformations, hemangioma, arterial anomalies, cardiac defects, eye anomalies) syndrome has been debated owing to concerns that the cardiovascular effects of the drug may increase the risk for arterial ischemic stroke.

Objective: To assess the incidence of adverse events among patients with PHACE syndrome receiving oral propranolol for infantile hemangioma.

Design, Setting, And Participants: This multicenter retrospective cohort study assessed the incidence of adverse events among 76 patients with PHACE syndrome receiving oral propranolol for infantile hemangioma at 11 tertiary care, academic pediatric dermatology practices.

Effect of a Referral-Only Policy on Wait Time for Outpatient Pediatric Dermatology Appointments.

Decreasing wait time for pediatric dermatology appointments is important to patients. We retrospectively examined the effect of a referral-only policy on patient wait time for an initial appointment in an academic pediatric dermatology clinic and found a statistically significant decrease in wait time after the policy was instituted.

Immunohistochemical Staining of Pediatric Solitary Angiokeratomas.

The precise etiology and subtype of vessels constituting angiokeratomas is poorly understood. We sought to characterize the vessels by studying prospero-related homeobox gene-1 and D2-40 expression in 22 pediatric solitary angiokeratomas. Routine histologic examination demonstrated a mix of lymph-containing vessels and erythrocyte-filled small vessels.

Topical Timolol Maleate Treatment of Infantile Hemangiomas.

Background: There has been a dramatic increase in the off-label use of ophthalmic timolol maleate, a β-blocker used for infantile hemangioma (IH) treatment as a topical counterpart to oral propranolol. Its safety and efficacy in a pediatric population with IH have not been evaluated in a large cohort. Our goal was to retrospectively assess timolol's effectiveness, discern characteristics associated with response, and document reported adverse events.

Infantile Hemangiomas in Twins: A Prospective Cohort Study.

Background: Twins have a higher-than-expected risk of infantile hemangiomas (IHs), but the exact reasons for this association are not clear. Comparing concordant and discordant twin pairs might help elucidate these factors and yield more information about IH risk factors.

Methods: A prospective cohort study of twin pairs from 12 pediatric dermatology centers in the United States, Canada, Argentina, and Spain was conducted.

Diagnosis and Management of Infantile Hemangioma.

Infantile hemangiomas (IHs) are the most common tumors of childhood. Unlike other tumors, they have the unique ability to involute after proliferation, often leading primary care providers to assume they will resolve without intervention or consequence. Unfortunately, a subset of IHs rapidly develop complications, resulting in pain, functional impairment, or permanent disfigurement.

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.

Multiple cutaneous and hepatic hemangiomas in infants.

Objectives: The objectives of the study were to determine the rate of hepatic hemangiomas in infants with cutaneous infantile hemangiomas that were screened by abdominal ultrasound; identify morphological subtypes and number of cutaneous infantile hemangiomas that are likely to suggest the presence of hepatic hemangiomas; and identify clinical history, physical findings, or laboratory abnormalities that may predict hepatic involvement.

Methods: A retrospective study was conducted between 2000 and 2007 on 37 infants with cutaneous hemangiomas who underwent abdominal ultrasound for hepatic hemangiomas. Infants were classified into subgroups based upon the morphology of their cutaneous hemangioma(s).

Giant cell tumor of bone in a child with Goltz syndrome.

Giant cell tumor of bone is a neoplasm that is rarely seen in children. Goltz syndrome is a disorder that affects multiple ectodermal and mesodermal tissues and has occasionally been associated with giant cell tumors of bone. Our case of giant cell tumor in a 5-year-old girl with Goltz syndrome suggests that this syndrome provides a unique situation wherein the practitioner should consider giant cell tumor of bone, even in a pediatric setting.

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.

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.