Pathogenic variants in PIK3CA are associated with clinical phenotypes of kaposiform lymphangiomatosis, generalized lymphatic anomaly, and central conducting lymphatic anomaly.

2023

e30419

05/2023

1545-5017

Complex lymphatic anomalies are debilitating conditions characterized by aberrant development of the lymphatic vasculature (lymphangiogenesis). Diagnosis is typically made by history, examination, radiology, and histologic findings. However, there is significant overlap between conditions, making accurate diagnosis difficult. Recently, genetic analysis has been offered as an additional diagnostic modality. Here, we describe four cases of complex lymphatic anomalies, all with PIK3CA variants but with varying clinical phenotypes. Identification of PIK3CA resulted in transition to a targeted inhibitor, alpelisib. These cases highlight the genetic overlap between phenotypically diverse lymphatic anomalies.

10.1002/pbc.30419

Pediatr Blood Cancer

37194624

Tumor necrosis factor-α inhibitor-induced psoriasis in juvenile idiopathic arthritis patients.

2019

2019 Jun 25

1525-1470

BACKGROUND/OBJECTIVES: The development of psoriasis while on tumor necrosis factor inhibitors (TNFi) is a paradoxical effect of agents that treat psoriasis. There is a paucity of data available on this entity in juvenile idiopathic arthritis (JIA). Our objectives were to determine the prevalence of TNFi-induced psoriasis in patients with JIA at two pediatric centers, and psoriasis response to therapeutic modifications.

METHODS: We performed retrospective chart review on patients with JIA treated with TNFi (adalimumab, etanercept, infliximab) who developed psoriasis. TNFi-induced psoriasis was defined as an incident diagnosis of psoriasis after starting a TNFi. Patients with personal histories of psoriasis prior to TNFi therapy were excluded. Following diagnosis, responses to medication changes were defined based on physician assessments.

RESULTS: Nine of 166 (5.4%) patients on TNFi for JIA were diagnosed with TNFi-induced psoriasis. All cases were female. One had a family history of psoriasis. The median age was 10 (range 2-16) years. Five (55%) patients experienced scalp psoriasis, including four (44%) with alopecia. Two (22%) patients achieved significant improvement after switching to different classes of biologic agents, while three (33%) patients had significant improvement following discontinuation of biologic therapy. One of five patients who switched to a different TNFi had complete resolution, while four had worsening symptoms or partial improvement.

CONCLUSIONS: Our findings demonstrate the prevalence of TNFi-induced psoriasis in JIA at two centers. Though larger studies are needed, our data suggest discontinuation of TNFi or biologic class switching should be considered as treatment strategies in select patients.

10.1111/pde.13859

Pediatr Dermatol

31240749

Remission of seizures with immunosuppressive therapy in Parry-Romberg syndrome and en coup de sabre linear scleroderma: Case report and brief review of the literature.

2018

2018 Aug 31

1525-1470

<p>Parry-Romberg syndrome (PRS) is characterized by progressive atrophy of facial skin, soft tissues, muscle, and bone. En coup de sabre syndrome is a form of linear scleroderma (LS) involving the skin of the frontoparietal forehead and scalp. Both conditions can be associated with neurologic findings, including seizures. We explore a case in which skin findings and seizure burden improved with methotrexate therapy.</p>

10.1111/pde.13647

Pediatr Dermatol

30168188

Evaluation of the reliability and validity of the Cutaneous Lupus Erythematosus Disease Area and Severity Index (CLASI) in pediatric cutaneous lupus among pediatric dermatologists and rheumatologists.

2018

2018 Jul 23

1365-2133

<p><strong>BACKGROUND: </strong>The CLASI is a reliable outcome measure for cutaneous lupus erythematosus (CLE) in adults used in clinical trials. However, it has not been validated in children, limiting clinical trials for pediatric CLE.</p>

<p><strong>OBJECTIVE: </strong>This study aims to validate the CLASI in pediatrics.</p>

<p><strong>METHODS: </strong>Eleven pediatric patients with CLE, six dermatologists and six rheumatologists, participated. Physicians were trained to use the CLASI and Physician Global Assessment (PGA). Physicians individually rated all patients using both tools. Each physician reassessed two randomly selected patients. Within each physician group, Intraclass Correlation Coefficient (ICC) was calculated to assess the reliability of each measure.</p>

<p><strong>RESULTS: </strong>CLASI activity scores demonstrated excellent inter- and intra-rater reliability (ICC&gt;0.90), while the PGA activity scores had good inter-rater reliability (ICC 0.73-0.77) among both specialties. PGA activity scores showed excellent intra-rater reliability (ICC=0.89) and good intra-rater reliability (ICC=0.76) for dermatologists and rheumatologists, respectively.</p>

<p><strong>LIMITATIONS: </strong>Limitations of this study included the small sample size of patients and potential recall bias during the physician re-rating session.</p>

<p><strong>CONCLUSION: </strong>CLASI activity measurement showed excellent inter- and intra-rater reliability in pediatric CLE and superiority to findings with the PGA. These results demonstrate that the CLASI is a reliable and valid outcome instrument for pediatric CLE. This article is protected by copyright. All rights reserved.</p>

10.1111/bjd.17012

Br. J. Dermatol.

30033560

Erythema Ab Igne in an Adolescent With Chronic Pain: An Alarming Cutaneous Eruption From Heat Exposure.

2018

2018 Mar 12

1535-1815

<p>Erythema ab igne (EAI) is a cutaneous finding caused by prolonged heat exposure and is characterized by a reticular, brownish-pigmented, often telangiectatic dermatosis. The eruption is reminiscent of livedo reticularis, which is typically seen in the setting of a number of rheumatologic conditions, most prominently vasculitis. Identification of key features distinguishing EAI from livedo reticularis can aid in the diagnosis of EAI and correct elucidation of the underlying etiology. Our patient presented with heating pad-induced EAI in the setting of chronic pain. Only 6 other pediatric cases of EAI associated with heat sources for chronic pain are reported (Acta Derm Venereol. 2014;94:365-367, J Pediatr. 2013;163:1789, Int J Eat Disord. 2013;46:381-383, Arch Dis Child. 2008;93:389, Arch Pediatr Adolesc Med. 2012;166:185-186, Br J Clin Pract. 1990;44:248-251). Our case highlights the need for awareness of this pathognomonic skin eruption in children with chronic pain conditions to help avoid an extensive workup for vasculitis.</p>

10.1097/PEC.0000000000001460

Pediatr Emerg Care

29538269

Retrospective review of immunocompromised children undergoing skin biopsy for suspected invasive infection: Analysis of factors predictive of invasive mold.

2018

104-11

2018 Jan

1525-1470

<p><strong>OBJECTIVES: </strong>Cutaneous lesions are often the first marker of invasive mold infection, which can cause substantial morbidity in immunocompromised children. The purpose of this study was to describe the evaluation and outcomes of immunocompromised children who presented with findings requiring skin biopsy because of concern about invasive infection. In children who were biopsied, we sought to determine the factors predictive of invasive mold infection.</p>

<p><strong>METHODS: </strong>A retrospective review was conducted at the Children's Hospital of Philadelphia. Patients included in the study were immunocompromised individuals younger than 26 years old who underwent skin biopsy by the inpatient dermatology consultation team between January 1, 2003, and March 15, 2015, because of development of new cutaneous lesions that were suspected of being invasive infection.</p>

<p><strong>RESULTS: </strong>One hundred five encounters met the inclusion criteria. Fifty (47.6%) biopsied individuals had an infectious pathogen identified on histopathology or culture. Mold was the most common (36%) pathogen, followed by bacteria (32%) and yeast (26%). The presence of a single lesion (P = .001) and prior occlusion at the site of the lesion (P &lt; .001) were associated with mold on biopsy. The combination of a single lesion, history of occlusion, and tissue necrosis on examination was highly predictive for invasive mold infection (86.3% [95% confidence interval 55.1-97.0%]). Of the 18 individuals with confirmed invasive mold infection, 13 (72%) underwent surgical resection, of whom 12 (92%) survived the 30-day follow-up period.</p>

<p><strong>CONCLUSION: </strong>Skin biopsy enabled the detection of a pathogen that informed directed therapeutic interventions in nearly half of participants. Institutions caring for immunocompromised children should ensure adequate staffing of clinical personnel approved to perform skin biopsies.</p>

10.1111/pde.13351

Pediatr Dermatol

29231258