Lori Prok

Symptomatic Congenital Hemangioma and Congenital Hemangiomatosis Associated With a Somatic Activating Mutation in GNA11.

IMPORTANCE Congenital hemangiomas are uncommon benign vascular tumors that present fully formed at birth. They are rarely associated with transient hematologic abnormalities, which are typically less severe than the Kasabach-Merritt phenomenon associated with kaposiform hemangioendotheliomas. Congenital hemangiomas are typically solitary and have not been reported to occur in a multifocal, generalized pattern. OBJECTIVE To describe a male infant born with an unusual, large vascular mass complicated by anemia, thrombocytopenia, and disseminated intravascular coagulopathy, as well as innumerable small vascular papules in a generalized cutaneous distribution. DESIGN, SETTING, AND PARTICIPANT This case report is a descriptive observation of the results of clinical, pathologic, and genetic studies performed in a single male infant observed for 2 years (May 2013 to June 2015) for vascular anomalies at a tertiary care referral center. MAIN OUTCOMES AND MEASURES Histopathologic, immunohistochemical, and genetic study results of tumor specimens and saliva. RESULTS Careful pathologic study of 3 tumor specimens revealed similar lobular proliferations of bland endothelial cells. Lesional vessels did not express GLUT1 or the lymphatic marker D2-40, whereas WT1 was expressed. A somatic c.A626C, p.Q209P mutation in the GNA11 gene was identified in tumoral tissue. CONCLUSIONS AND RELEVANCE These findings support a unifying diagnosis of congenital hemangioma for these vascular tumors. To date, this is the first-reported case of a hemangiomatosis presentation of congenital hemangioma. In addition to highlighting this novel phenotype, this case indicates the rare association of congenital hemangioma with hematologic abnormalities and verifies somatic activating mutations as the underlying cause of congenital hemangioma.

Dermatology information on the Internet: An appraisal by dermatologists and dermatology residents

To the Editor: Patients increasingly seek health information on the World Wide Web both for personal knowledge and to facilitate patientephysician discussion at the timeofmedical consultation. In January 2008, approximately 44% of all health-related Web site traffic was on pages found via search engines, an increase of 3% in health-related traffic share from the previous year. Google.com received the greatest portion of this Internet traffic. The Internet provides an easily accessible forum through which health information, with varying accuracy, can be spread. This holds especially true with the development of Web 2.0, which is comprised of Web sites that are geared toward the facilitation of communication between Internet users (Wikipedia, blogs, etc). We sought to assess the content, accuracy, and quality of dermatologic health information on the Internet. The top three Web sites found through a query of the top eight dermatologic diagnoses using Google were analyzed by six board-certified dermatologists and three dermatology residents for accuracy, content, and completeness. Each Web site was given a positive, neutral, or negative rating according to the evaluators’ overall impression of the Web site, the accuracy of its disease description, treatment description, and photographic depiction, and its user-friendliness. Web sites were also categorized according to target audience, sponsorship or affiliation, number of languages, presence of reliability certification (ie, Health on the Net Foundation), and types and extent of consumer advertising. FlescheKincaid grade levels for readability were calculated for all Web sites using Microsoft Office Word software (Microsoft; Redmond, WA). Twenty-four Web sites were found by searching for the top eight dermatologic diagnoses on the search engine Google. There were no duplicate Web sites or broken links among the returned search results. Common Internet domains included: Wikipedia.org (8 Web sites), MayoClinic.com (2), and MedicineNet.com (2). Six additional Web sites were represented by dermatology-specific organizations (one each from AOCD.org, SkinCarePhysicians.com, SkinCancer.org, Psoriasis.org, Acne.org, and Acne.com), and five additional Web sites were represented by organizations with a general medical focus (one each from WebMD.com, eMedicine.com, Medline [NIH.gov], FamilyDoctor.org, andMerck.com). One Web site (About.com) was not specifically healthrelated. No Web sites were excluded. Dermatologists and dermatology residents rated dermatology Web sites found through Google as generally accurate (Table I). Importantly, Web 2.0 Web sites that were evaluated were found to be generally equal in accuracy and completeness to their noneWeb 2.0 counterparts. Furthermore, each Web site was categorized according to the various criteria mentioned above (Table II). Web sites found through Google are generally targeted for a lay patient audience, represent a wide variety of types of sponsorships and affiliations (Web 2.0 developments being the most common), have a number of language translations, possess some version of health reliability certification, and contain a fair amount of advertising. In general, however, Web sites had a FlescheKincaid grade level well above the recommended sixth grade level. While Internet resources regarding health information are subject to misinformation, dermatologic Web sites are relatively accurate and complete according to dermatologists and dermatology residents. However, our findings also suggest that Internet-based information may be too difficult for comprehension by a substantial portion of the patient population. Patients who want to know more about specific dermatologic conditions may benefit seeking information from reliable Web sites found through Google.com.

Characterization of Children With Recurrent Episodes of Stevens Johnson Syndrome

We performed a retrospective chart review for all cases of recurrent Stevens Johnson Syndrome (SJS) from March 2013 to March 2016. Nine children had 29 episodes of SJS or incomplete SJS; all children were male and 8 (88%) were white. Episodes affected mucus membranes with minimal skin involvement. Mycoplasma infections and HLA-B27/-B51 were common.

Expression of phosphodiesterase-5 in lymphatic malformation tissue.

Expression of Phosphodiesterase-5 in Lymphatic Malformation Tissue Lymphatic malformations (LMs) are uncommon and sometimes debilitating congenital vascular anomalies that presumably arise because of developmental dysplasia of the lymphatic network in utero. They comprise primitive lymphatic sacs surrounded by a thickened layer of connective tissue and interspersed muscle fibers.1 Current treatments for LM are palliative and only partially successful and include compression, surgical resection, laser ablation, and sclerotherapy. A recent report by Swetman and colleagues2 noted marked reductions in LM size in 3 children after starting treatment with oral sildenafil citrate, an inhibitor of phosphodiesterase isoform 5 (PDE5). The localization of PDE5 in LM tissue and the mechanism of the effect of sildenafil on LM is unknown. To further investigate PDE5 localization within LM tissue, we performed immunohistochemical studies to identify the presence and relative location of PDE5 expression in vascular smooth muscle, vascular endothelium, and lymphatic endothelium.

Multifocal Vascular Tumors and Fetal Hydrops

A female infant weighing 3085 g was born at 33 and 4/ 7 weeks to an 18-year-old, gravida 1 para 0 mother after induction of labor for severe, nonimmune fetal hydrops. This singleton pregnancy was uncomplicated, including a normal 20-week ultrasound, until 32 weeks’ gestation, when discordant maternal size and dates were noted. Findings of ultrasonography demonstrated polyhydramnios; edema of the fetal scalp, thorax, and abdomen; and an increased middle cerebral artery peak systolic velocity (102 cm/s). Fetal cordocentesis revealed hemoglobin of 7 g/dL, mean corpuscular volume of 125.8 fL, mean red cell distribution width of 99.7 fL, nucleated red blood cell percent of 140.1%, and platelet count of 42 000 per mm. Percutaneous in utero transfusion increased the hemoglobin levels from 7 to 12.8 g/ dL. Cells in amniotic fluid had a 46XX karyotype and negative tests on polymerase chain reaction for parvovirus, herpes simplex virus 1 and 2, and toxoplasmosis. Subsequently, the mother developed pulmonary edema, lowerextremity edema, and increased liver enzymes (aspartate aminotransferase 70 U/L, alanine transaminase 57 U/L) consistent with mirror syndrome (a manifestation of severe fetal hydrops in which the mother displays the same pathologic manifestations as the fetus, also known as Ballantyne syndrome). Delivery was induced and ultimately resulted in cesarean delivery for failure to progress. After delivery, the infant was intubated for respiratory failure. Apgar scores were 2 and 7 at 1 and 5minutes, respectively. Findings of the physical examination were remarkable for an infant with no spontaneousmovement. She had a grade III/VI systolic ejection murmur, hepatosplenomegaly, and a distended abdomen. The skin was diffusely edematous and was covered withmultiple 0.5to 2-cm erythematous, blanchable, soft papules and plaques covering the entire body (Figure 1). Chest radiograph revealed massive cardiomegaly, diffuse pulmonary infiltrates, and small bilateral pleural effusions. Echocardiogram showed a dilated and hypertrophied right ventricle with septal flattening, bidirectional shunting through a large patent ductus arteriosus, left-to-right shunting through a patent foramen ovale, and a small pericardial effusion. Abdominal ultrasound demonstrated massive hepatomegaly with multiple, highly vascularized

Case Report—Papular Xanthoma in a 10‐Year‐Old Female with Abnormal Lipid Profile

Abstract:  Papular xanthoma is a rare normolipemic xanthomatous skin disease which primarily occurs in adults. While this rare disorder has been documented in children, all but one reported in the literature had a normal lipid profile. We report a 10‐year‐old girl with multiple papule xanthomas on her face that had an abnormal lipid profile. To our knowledge this is only the second reported case of papular xanthoma in the pediatric population with an abnormal lipid profile.

Case 2: Bilateral Thumbnail Abnormalities in a 9-year-old Boy.

1. Megan Craddock, MD* 2. Lori Prok, MD* 1. *The University of Colorado, School of Medicine, Aurora, CO. A previously healthy 9-year-old boy presents for evaluation of bilateral thumbnail abnormalities. His mother states that the nails have been deformed for approximately 2 years, but she is unable to identify any inciting agent. The patient and mother deny any trauma to the nails such as picking or biting, infection, febrile illness, or recent or past medication use. The patient has no known medical or family history of skin disorders or nail abnormalities. Social history reveals that the boy is a frequent video gamer, specifically using a handheld device requiring thumb operation. He reports frequent daily use of this device. Examination of the skin and nails reveals a longitudinal groove of the entire bilateral thumbnail plates. Multiple small horizontal grooves radiate from the larger lesion, giving the appearance of an inverted fir tree (Figure). The lunulae are slightly enlarged. There is no associated skin rash. There is no paronychia, and no other nails are affected on either hand. No pain is associated with palpation of the bilateral thumbnails. No additional …