Clinical characteristics of infantile hemangiomas with aggressive, persistent, and destructive ulceration.

BACKGROUND/OBJECTIVES: Ulceration is a common complication of infantile hemangioma (IH). Severe, persistent ulceration occurs in a minority of patients. This study aims to characterize the clinical features of IH with aggressive ulceration (AU). METHODS: Multicenter retrospective study of clinical features of IH with AU. RESULTS: Thirty-five patients with AU were identified and included in the study. The majority of AU occurred in segmental IH (23/35, 65%). Segmental IH with AU were large (≥10 cm2 ; 16/23, 69%, p < .001) with a thin (<3 mm) superficial component (16/23, 69%, p < .001). Localized IH with AU had a thick (>3 mm) superficial component (11/12, 92%, p < .001). All diaper area IH with AU (9/35) were segmental with thin superficial component (100%, p = .02). IH with AU in the head/neck (10/35) were more commonly localized (67%) and mixed (62.5%), while segmental, thick superficial morphology was more common on trunk (9/35) and upper extremities (7/35). CONCLUSIONS: IH resulting in AU differ in clinical features by anatomic site. Those in the diaper area are nearly always segmental with thin superficial component, whereas other sites tend to be localized, mixed, with thick superficial component. These distinct phenotypes may prove useful in the clinical setting for physicians to identify patterns of IH ulceration with increased risk of aggressive, persistent ulceration.

Incidence and clinical factors associated with ulceration in infantile hemangiomas.

BACKGROUND: Ulceration is an important complication in infantile hemangiomas (IHs). Prior to the use of ß-blockers, the estimated incidence of this complication in a referral population was between 15% and 30%. The incidence and factors associated with ulceration have not been systematically studied since the emergence of ß-blocker therapy. OBJECTIVE: Examine the incidence and clinical predictors for ulceration in IHs. METHODS: Retrospective study at tertiary referral centers. RESULTS: Compared with a previous large pre-propranolol cohort study, ulceration occurred at a significantly lower incidence of 11.4%. Clinical factors associated with ulceration included partial segmental morphology, location in the diaper area, and size greater than 5 cm. Higher risk of ulceration in Black patients was observed, suggesting barriers to care including delayed diagnosis and referral to specialty care. LIMITATIONS: Retrospective design at tertiary referral centers. CONCLUSION: Compared with reports before the use of ß-blockers became widespread, the incidence of ulceration in IHs has decreased. However, it continues to be a relatively frequent complication of IH.

A case series of giant molluscum contagiosum in an immigrant African pediatric population.

Giant molluscum contagiosum (MC) has a well-known association with human immunodeficiency virus and other immune deficiency states. Although rare, it can be seen in healthy immunocompetent children. We describe eight cases of giant MC in healthy, immunocompetent African immigrant children in the Columbus, Ohio area. This report describes the clinical characteristics, treatment, and course of giant MC in this patient population.

Clinical Features, Prognostic Factors, and Treatment Interventions for Ulceration in Patients With Infantile Hemangioma.

Importance: Ulceration is a common complication of infantile hemangioma (IH), which leads to substantial morbidity. Ulceration in IH has not been systematically studied since the advent of ß-blocker therapy for IH. Objectives: To examine treatment interventions used for ulceration in IH and identify clinical prognostic indicators of healing time. Design, Setting, and Participants: A retrospective, multicenter cohort study was conducted on 436 consecutive patients with a clinical diagnosis of ulcerated IH and available clinical photographs. Patients receiving care at tertiary referral centers evaluated between 2012 and 2016 were included; statistical and data analysis were performed from February 7 to April 27, 2020. Exposures: Clinical characteristics, treatment interventions, course, complications, and resource use were analyzed. Treatment interventions for ulceration in IH included local (wound care, topical), systemic (ß-blocker, corticosteroids), and procedural (pulsed-dye laser). Main Outcomes and Measures: The primary end point was time to complete or nearly complete ulceration healing. Clinical characteristics were analyzed to determine the responses to most common interventions and prognostic factors for healing of ulceration. Results: Of the 436 patients included in the study, 327 were girls (75.0%); median age at ulceration was 13.7 weeks (interquartile range, 8.86-21.30 weeks). The median heal time was 4.79 weeks (95% CI, 3.71-5.86 weeks) with wound care alone, 5.14 weeks (95% CI, 4.57-6.00 weeks) with timolol, 6.36 weeks (95% CI, 5.57-8.00 weeks) with a systemic ß-blocker, and 7.71 weeks (95% CI, 6.71-10.14 weeks) with multimodal therapy. After adjusting for IH size, a dose of propranolol less than or equal to 1 mg/kg/d was associated with shorter healing time compared with higher propranolol doses (hazard ratio, 2.04; 95% CI, 1.11 to 3.73; P = .02). Size of the IH was identified as a significant prognostic factor for healing time in multivariable analysis. Increasing size of IH portends a proportionately longer time to heal of the ulceration. Conclusions and Relevance: Despite the use of ß-blockers, this cohort study found that a subset of patients with IH ulceration continued to experience prolonged IH healing times. Larger IH size appears to be a poor prognostic factor for time to heal. For patients requiring systemic therapy, initiation of propranolol at lower doses (≤1 mg/kg/d) should be considered.

Infantile Hemangiomas of the Lip: Patterns, Outcomes, and Implications.

BACKGROUND: Infantile hemangiomas of the lip are potentially problematic because of high visibility and risk of disfigurement and ulceration. This study examined sizes, patterns, and locations of lip hemangiomas, their prognostic value, and their implications in hemangioma pathogenesis. METHODS: Records of 106 patients seen for lip hemangiomas from 2006 to 2013 at Nationwide Children's Hospital were reviewed. Localized hemangiomas were mapped to a location on the lip based on their focus. Size, location, and morphology were assessed with regard to outcome. Poor outcomes were considered to be marked anatomic deformity, scarring, functional complications, and ulceration. RESULTS: Of 72 untreated hemangiomas with discernible outcomes, 92% of segmental lip hemangiomas were associated with poor outcomes, as opposed to 32% of localized hemangiomas (p < 0.001). Localized lip hemangiomas originated from six distinct locations. Localized untreated hemangiomas with poor outcomes were, on average, approximately 2.36 cm(2) larger (95% confidence interval 1.47, 3.25) than those that resolved favorably (p < 0.001); 52% of upper lip untreated hemangiomas and 6% of lower lip hemangiomas had poor outcomes (p = 0.001), and 61% of untreated localized hemangiomas involving the vermilion border and 25% of those that did not had poor outcomes (p = 0.01). Hemangiomas that received early medical or surgical intervention were less likely to have poor outcomes than untreated hemangiomas (p = 0.03). CONCLUSIONS: Localized lip hemangiomas occur in distinct locations on the lip that are not random and appear to reflect known models of facial development. Segmental morphology is associated with poor outcomes. In localized hemangiomas, the upper lip is associated with more problematic outcomes than the lower lip. Large size and involvement of the vermilion border are also valuable prognostic indicators associated with poor outcomes. Early intervention in lip hemangiomas is associated with better outcomes.

Eccrine Angiomatous Hamartoma: A Clinicopathologic Review of 18 Cases.

BACKGROUND: Eccrine angiomatous hamartoma (EAH) is a benign cutaneous lesion defined by the proliferation of hamartomatous eccrine and capillary-like vascular elements in the dermis. However, the epidemiologic, morphologic, and histopathologic aspects of this uncommon disorder have yet to be fully delineated. METHODS: The authors retrospectively reviewed 18 EAH cases (including 14 accompanying skin biopsy specimens) diagnosed at 4 American university hospitals from 1996 to 2014. RESULTS: Patients ranged from 3 days to 84 years at time of diagnosis with a median age of 15 years. A male:female ratio of 11:7 was observed. Sixty-seven percent of cases presented in the extremities, but lesions in the trunk and head/neck regions also occurred. Four patients had multiple lesions, and 2 displayed a segmental pattern. Histologically, dermal vascular dilatation and acanthosis often accompanied EAH's typical eccrine and vascular comingling. One individual developed EAH at the site of a recurrent squamous cell carcinoma after previous excision. CONCLUSIONS: Although previously thought to occur primarily as a solitary angiomatous-appearing malformation on the extremities of children, EAH may develop with some frequency in adults and may manifest in a multifocal linear distribution. The authors also raise additional histopathologic consideration in support of the vascular theory of histogenesis for this condition.

Experience with Holter monitoring during propranolol therapy for infantile hemangiomas.

BACKGROUND: Although adverse events in children treated with propranolol have proven rare, the appropriate methods of assessing cardiovascular risk and monitoring for toxicity when the medication is used for infantile hemangiomas remain unclear. OBJECTIVE: We sought to analyze Holter monitor reports of otherwise healthy patients on propranolol for infantile hemangiomas to determine the incidence of sustained arrhythmias and to evaluate the utility of Holter monitoring in the outpatient setting. METHODS: We retrospectively reviewed the charts of patients with infantile hemangioma who underwent 24-hour Holter monitoring after initiation or dose escalation of propranolol between 2011 and 2014. RESULTS: In all, 43 patients aged 1.8 to 36.2 months, with 44 Holter monitor reports, were included in the study. No sustained arrhythmias were revealed. The treatment plan was not altered in any patient based on the Holter monitor report. LIMITATIONS: This was a retrospective study design. CONCLUSION: Our study suggests that Holter monitoring may be unnecessary in otherwise healthy patients with infantile hemangioma older than 12 weeks who are treated with propranolol in the outpatient setting.

Tuberous Sclerosis Complex: An Update for Dermatologists.

Tuberous sclerosis complex is an autosomal dominant disorder that often manifests early in life with cutaneous features, and it is important that dermatologists who care for children remain up to date on its diagnosis and management. This article provides an update regarding the most recent guidelines for diagnosis published by the International Tuberous Sclerosis Complex Consensus Conference, which took place in 2012, and provides a brief literature review of the most recent developments in the treatment of skin findings.

Dermatologic and dental aspects of the 2012 International Tuberous Sclerosis Complex Consensus Statements.

IMPORTANCE: The 2012 International Tuberous Sclerosis Complex Clinical Consensus Conference was convened to update the last consensus statement in 1998. Skin and dental lesions are common in tuberous sclerosis complex (TSC) and are a frequent concern for patients. Recognition of these lesions is imperative for early diagnosis, given the treatment advances that may improve patient outcomes. OBJECTIVE: To detail recommendations for the diagnosis, surveillance, and management of skin and dental lesions in TSC. EVIDENCE REVIEW: The TSC Dermatology and Dentistry Subcommittee, 1 of 12 subcommittees, reviewed the relevant literature from 1997 to 2012. FINDINGS: A consensus on skin and dental issues was achieved within the Dermatology and Dentistry Subcommittee before recommendations were presented, discussed, and agreed on in a group meeting of all subcommittees from June 14 to 15, 2012. CONCLUSIONS AND RELEVANCE: Skin and dental findings comprise 4 of 11 major features and 3 of 6 minor features in the diagnostic criteria. A definite diagnosis of TSC is defined as the presence of at least 2 major features or 1 major and 2 or more minor features; in addition, a pathological mutation in TSC1 or TSC2 is diagnostic. Skin and oral examinations should be performed annually and every 3 to 6 months, respectively. Intervention may be indicated for TSC skin or oral lesions that are bleeding, symptomatic, disfiguring, or negatively affecting function. Options presented include surgical excision, laser(s), or use of a mammalian target of rapamycin inhibitor.

Analysis of two candidate genes for Basan syndrome.

Basan syndrome is an extremely rare ectodermal dysplasia with autosomal dominant inheritance and variable expressivity. The etiology of Basan syndrome remains unknown. To identify the Basan syndrome gene, we sequenced keratin 14 (KRT14) and SMARCAD1 in a previously unreported kindred with the disease. Sequencing of the coding regions and splice junctions of KRT14 and SMARCAD1 was performed using PCR-amplified genomic DNA isolated from blood or saliva and standard PCR protocols. In vitro functional studies were performed for a variant identified in SMARCAD1. While direct sequencing of KRT14 failed to reveal any likely pathogenic sequence alterations or splice site variants, a heterozygous splicing variant (c.378+3A>T) that segregated with the disease was identified in the skin-specific isoform of SMARCAD1. In vitro studies failed to demonstrate a splicing defect in SMARCAD1. We screened two candidate genes for Basan syndrome in a 3-generation pedigree. The skin-specific isoform of SMARCAD1 remains a good candidate for this disease.

The curette prep: a modification of the traditional scabies preparation.

An accurate diagnosis of scabies is critical for proper treatment of this common infestation. In our clinic, we have developed a modification of the traditional method of performing a scabies preparation, called the curette prep, that substitutes a disposable curette for a scalpel blade when obtaining skin scrapings for examination. The major advantages of this technique are greater acceptability and safety for pediatric patients.

Results of Goeckerman treatment for psoriasis in children: a 21-year retrospective review.

Goeckerman treatment has been used for the management of widespread psoriasis in children for several decades at Mayo Clinic. We aimed to review our institutional experience with the effectiveness of Goeckerman treatment for psoriasis in children. We retrospectively reviewed the records of pediatric patients who underwent Goeckerman treatment over a 21-year period (1983-2003). The main outcome measure was improvement in psoriasis. During the study period, 65 children received Goeckerman treatment for predominantly widespread, recalcitrant psoriasis. The mean age was 11.6 years (range, 3 mos to 18 yrs), and the female-to-male ratio was 2:1. Psoriasis improved in all patients: 55 patients (85%) had >80% clearance of their psoriasis. The only adverse effect was folliculitis, occurring in 27 patients (42%). Mean duration of follow-up was 2.6 years (range, 17 days-18.2 yrs); average duration of remission was 2.6 years (range, 2 mos-12.79 yrs). Goeckerman treatment is an effective treatment for widespread psoriasis in children.

Kasabach-merritt phenomenon: case series and retrospective review of the mayo clinic experience.

Kasabach-Merritt phenomenon (KMP) is a rare thrombocytopenic consumption coagulopathy associated with an enlarging tufted angioma or kaposiform hemangioendothelioma. We report a case series of patients with KMP and discuss the treatment options and outcomes. Nine patients with a diagnosis of KMP were identified through retrospective chart review-6 had "definite KMP" and 3 had "less likely KMP." The hematologic features of KMP and those of chronic coagulopathy seen with other vascular malformations can be similar, which makes KMP difficult to distinguish.

En coup de sabre morphea and Parry-Romberg syndrome: a retrospective review of 54 patients.

BACKGROUND: The relationship between en coup de sabre morphea and Parry-Romberg syndrome is unclear, and not much is known regarding their demographic and clinical characteristics or the efficacy of the treatments that are used. OBJECTIVE: The purpose of this study was to describe demographic data, clinical features, and medications used in a large cohort of patients with en coup de sabre morphea and Parry-Romberg syndrome. METHODS: A retrospective review of patients diagnosed with en coup de sabre morphea or Parry-Romberg syndrome at the Mayo Clinic from 1984 to 2004 was conducted. Demographic data, examination findings, and treatments were noted. RESULTS: We identified 54 patients who met criteria for inclusion in the study. Twenty-six patients (48%) had en coup de sabre morphea, 13 (24%) had Parry-Romberg syndrome, and 15 (28%) had both. Disease was present bilaterally in 7.4% of patients. Thirteen percent of all patients in the study group had seizures. Of patients who received treatment, most were treated with antimalarial agents (57.1%) or methotrexate (28.6%). LIMITATIONS: The study design was that of a retrospective review at a tertiary care center with referral bias. There were also limitations present because of the inherent nature of the diseases studied. CONCLUSION: En coup de sabre morphea and Parry-Romberg syndrome frequently coexist and are likely both variants of morphea. Bilateral disease is more common than previously reported. The efficacy of antimalarials and methotrexate in the treatment of these diseases remains unclear.

Complications following pulsed dye laser treatment of superficial hemangiomas.

BACKGROUND AND OBJECTIVE: Pulsed dye laser (PDL) has been reported to be safe and effective in the management of superficial hemangiomas of infancy. We report 12 patients with hemangiomas with complications following PDL. STUDY DESIGN/MATERIALS AND METHODS: Records of patients with hemangiomas and a known adverse outcome following PDL were reviewed. RESULTS: All were treated early (age range: 5 days to 4 months), and all hemangiomas were facial with a superficial component. Eleven were treated with a 585 nm wavelength, fluence range of 4.7-7 J/cm(2), without dynamic cooling. One patient received 7-12 J/cm(2) utilizing a 595 nm wavelength with dynamic cooling. In eight cases, treatment led to severe ulceration with subsequent pain, scarring, and in one instance, life-threatening hemorrhage. In four, permanent atrophic scarring was noted without ulceration. CONCLUSIONS: PDL treatment of superficial hemangiomas may rarely lead to significant complications including atrophic scarring and severe ulceration.

More than just a bump: the hamartoma syndromes.

The hamartoma syndromes detailed in this review are just a few examples of the many genodermatoses now known to be associated with uncontrolled tumor proliferation secondary to mutations in tumor suppressor genes. Knowledge gained through the study of these syndromes has not only improved our understanding of patients afflicted with such conditions, but has also led to significant insight into the important role tumor suppressor genes play in preventing tumor formation and in carcinogenesis. As major strides continue to be made in the identification of causative mutations in the hamartoma syndromes, options for genetic testing will continue to expand. Identification of mutations in PTEN in the various disorders that compose the PTEN hamartoma tumor syndrome illustrates just how such genetic knowledge has altered the way we both categorize and manage certain genetic conditions. As advances continue to be made in this arena, it is quite conceivable that many of the genetic syndromes will be renamed or categorized based on genetic mutations rather than the characteristic clinical features. However, despite these advances, it will still be the astute clinician's recognition of key clinical features that allows the diagnosis of a hamartoma syndrome to be considered.

Acne fulminans.

Acne fulminans is a syndrome of fulminant, necrotizing acne associated with bone lesions, constitutional symptoms, and laboratory abnormalities. A case report of an adolescent male with acne fulminans following withdrawal of isotretinoin and prednisone is presented.

Upper aerodigestive tract complications in a neonate with linear IgA bullous dermatosis.

Linear IgA bullous dermatosis (LABD) is a rare immunobullous condition known to affect the skin and mucous membranes of the eye and oral cavity in adults and young children. We describe a newborn with skin involvement who had life-threatening respiratory compromise from disease affecting the larynx, subglottis, trachea, and esophagus. Management with both tracheostomy and gastrostomy tube placement was necessary. Treatment included systemic steroids, dapsone, and intravenous immunoglobulin. We compare our neonatal case to the only other report in the literature highlighting involvement of the mucous membranes of multiple levels of the aerodigestive tract leading to respiratory compromise.

Pediatric oral medicine.

A thorough examination of the oral mucosa can provide helpful clues toward making a diagnosis in a number of developmental, neoplastic, inflammatory, and infectious conditions. A number of oral lesions seen in infants and children are benign and of no medical significance. In these instances, the ability of the physician to confidently identify the diagnosis, and reassure parents that a lesion is not worrisome, carries significant value. Likewise, the ability to recognize an underlying systemic illness or genetic disease based on an oral examination can also be of tremendous value, particularly when oral involvement is the presenting feature.