Cutis marmorata telangiectatica congenita: a focus on its diagnosis, ophthalmic anomalies, and possible etiologic factors.

Purpose: Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital disorder typified by localized or generalized cutaneous vascular anomalies, which dissipate over time. We review the diagnostic approach to CMTC and present a comprehensive examination of its ocular manifestations. Additionally, we offer recommendations for the ophthalmologic workup for patients with CMTC. Finally, we examine the possible causes of CMTC and summarize the current efforts to establish an etiologic mechanism for this disease.Methods: Thirty-three published cases of CMTC with ocular anomalies are examined in detail.Results: CMTC is diagnosed based on a specific set of congenital cutaneous symptoms, principally congenital reticular erythema that is unresponsive to local warming and absence of venectasia within the skin lesions. Ocular findings are not currently employed in this diagnostic process, likely due to an incomplete understanding into their presentation, frequency, and natural history. We show that the majority of ophthalmic manifestations are congenital, with glaucoma and posterior segment anomalies, consisting of retinal perfusion defects and vascular abnormalities, as the most frequently reported findings. Typical ophthalmic medical and surgical interventions appear to be effective for management of these CMTC-related pathology. Unfortunately, the etiology and pathophysiology of CMTC remains unknown, which obfuscates efforts to identify, examine, and initiate treatment in patients.Conclusions: While the ophthalmic community has traditionally viewed glaucoma as the classic ocular anomaly of CMTC, this dataset advocates for the prompt investigation of posterior segment abnormalities as well. However, our understanding of CMTC's ocular anomalies is complicated by a lack of reporting and/or incomplete (or nonexistent) ophthalmic examinations, and we strongly encourage comprehensive ophthalmic examinations for all CMTC patients at the time of diagnosis, followed by appropriate screening and surveillance throughout life. We believe these recommendations will spur additional data and disease insights that may be useful for future refinements to CMTC diagnostic algorithms.

Atenolol Versus Propranolol for Treatment of Infantile Hemangiomas During the Proliferative Phase: A Retrospective Noninferiority Study.

BACKGROUND/OBJECTIVES: The nonselective beta-blocker propranolol is the current criterion standard for treatment of infantile hemangiomas (IHs) and the first therapy that the U.S. Food and Drug Administration has approved for the condition, but concern about adverse effects, such as bronchospasm, hypoglycemia, and sleep disturbances, has sparked interest in the use of alternative agents such as the selective ß1 antagonist atenolol. Our aim was to compare the efficacy and adverse effect profiles of atenolol with those of propranolol in the treatment of IHs in a retrospective noninferiority trial. METHODS: Twenty-seven children with IHs treated with atenolol according to the Cleveland Clinic foundation's standardized clinical assessment and management plan (SCAMP) met inclusion criteria and were compared with a matched group of 53 children with IHs treated with propranolol. Three reviewers assessed response to therapy using a modified version of the previously validated Hemangioma Activity Score (HAS). RESULTS: The mean change in HAS was -2.94 ± 1.20 for patients treated with atenolol and -2.96 ± 1.42 for those treated with propranolol. There was no statistically significant difference in pre- and posttreatment modified HAS scores between the two groups (p = 0.60). There was no significant difference in the overall rate of adverse effects (p = 0.10), although 11% of patients treated with propranolol experienced reactive airway symptoms, whereas this was not seen in any of the patients treated with atenolol. CONCLUSION: Our study supports previous findings that atenolol is at least as effective as propranolol for treatment of IHs and poses less risk of bronchospasm. Our SCAMP proposes guidelines for dosing and monitoring parameters.

The Financial and Emotional Impact of Atopic Dermatitis on Children and Their Families.

OBJECTIVE: To examine the personal financial impact of atopic dermatitis (AD) and attempt to correlate cost of AD with emotional impact. STUDY DESIGN: Between March 2011 and December 2013, 82 caretakers of children 6 months to 12 years of age with moderate-to-severe AD were recruited at the time of dermatology clinic visits in Cleveland, Ohio, to complete surveys. The response rate was >95%. Participants were asked questions about direct expenses (medical visits, medications, and other products) and indirect expenses (time missed from work, childcare costs) related to AD in the past 4 weeks. Emotional impact was measured by the Childhood Atopic Dermatitis Impact Scale. RESULTS: The mean monthly personal cost of AD in the month before the office visit was $274 (median $114; IQR $29, $276), with $75 from direct costs (median $45; IQR $20, $110) and $199 from indirect costs (median $0; IQR $0, $208). An average of 34.8% of available monthly money was spent on AD care in the month before the office visit. For patients with Medicaid, there was a significant correlation between monthly adjusted personal cost and Childhood Atopic Dermatitis Impact Scale score (r = 0.548; P < .001); however, this correlation did not exist for patients who had commercial insurance (r = 0.269; P = .166). CONCLUSIONS: Our results illustrate the high emotional and financial burden of childhood AD and provide insight into spending patterns. In addition, our study correlate costs with emotional burden of AD for lower-income patients.

Periocular granuloma annulare: a case report and review of literature.

Granuloma annulare (GA) is a granulomatous dermatosis that rarely presents on the face and is extremely uncommon in the periocular region. We report our experience with the presentation and management of GA lesions on the eyelids of a 17-year-old girl. We performed a review of published literature and identified 13 cases of pediatric periocular GA. One additional case was identified upon review of all pediatric GA cases at the Cleveland Clinic Foundation. Review of these cases suggests that periocular GA is a benign condition that spontaneously regresses within a few months. GA nodules have a predilection for the upper eyelids. A greater incidence is noted in African American children. Awareness of the self-resolving nature of this condition can prevent unnecessary surgical excisions in affected children.

Surgical management of congenital dermatofibrosarcoma protuberans.

Congenital dermatofibrosarcoma protuberans (DFSP) is a rare tumor with varying clinical presentations that is commonly misdiagnosed. Treatment of congenital DFSP is complicated by delays in diagnosis and its propensity for subclinical spread. Of 61 reported cases, 11 (18%) were treated with Mohs micrographic surgery (MMS) and 46 (75%) were treated with wide local excision (WLE). One case was treated with imatinib, and the remaining 3 did not differentiate between receiving MMS or WLE. In the cases of congenital DFSP treated with MMS the clearance rate was 100% with an average follow-up of 4.3 years. The clearance rate seen with WLE was 89% with an average follow-up period of 1.9 years. The average margins taken during MMS (1.7 cm) were smaller than those taken with WLE (2.8 cm). Fifty percent of cases with available follow-up undergoing WLE required multiple surgeries. Based on superior cure rates with long-term follow-up, smaller surgical margins, and fewer surgical sessions, MMS should be considered as first-line treatment for congenital DFSP.