2020 1st Place Emage Winner: Infant With a Strange Rash

7-month-old male with no past medical history presented to the Pediatric Emergency Department (PED) for 4 months of rash and decreased urine output. Mom reports that she had initial sought medical care 4 months ago, but despite treatment and repeated reassurance, the rash has worsened. Over the last 24 hours prior to presentation, the rash became firm, indurated, and more edematous. The rash was initially localized to the diaper region, but recently spread inferiorly to the lower extremities and superiorly to the abdomen. Mom reports failure of treatment with topical steroids and only transient improvement when treated with oral steroids. Working diagnosis at the time of presentation was granuloma gluteale infantum.

On examination, there was notable extensive rash involving the diaper region and extending towards the abdomen superiorly and towards the posterior thighs inferiorly (Images 1-2). The rash was semi-circumferential, firm, and violaceous with a notable lichenification. There was no warmth to the rash. The testicles were notably firm, edematous, and had absent cremaster reflexes.

Workup in the PED include ultrasound of the testicles with doppler, complete blood count (CBC), reticulocyte count, ESR/CRP, LDH, Coagulation Studies, D-Dimer, Ferritin, Uric Acid, and CMP.

CBC was notable for anemia (Hgb 6.8 g/dL), thrombocytopenia (<10,000/uL), elevated D-Dimer (>10,000ng/mL), low fibrinogen (60mg/dL), and prolonged coagulation studies (PT 22.8 sec/aPTT 50.4 sec). Ultrasound of the testicles was negative for testicular torsion.

The patient was admitted to the Hematology/Oncology service for further workup and monitoring. MRA of the abdomen was performed (Images 3-4), which demonstrated a large area of cutaneous arterial hyperenhancement with progressive enhancement on venous phase predominantly involving the right flank, right thigh, bilateral inguinal regions, and scrotum. This was consistent with a diagnosis of Kaposiform Hemangioendothelioma.

Conclusion:

Kaposiform hemangioendothelioma (KHE) is a rare vascular neoplasm that is typically diagnosed in early infancy or childhood and is associated with a high morbidity and mortality.¹ KHE is characterized by progressive angiogenesis and lymphangiogenesis that can be complicated by Kasabach-Merritt phenomenon (KMP) – a profound thrombocytopenia and hypofibrinogenemia that results from trapping of platelets within the vascular tumor.^1,2 The high morbidity and mortality of KHE is due to consumptive coagulopathy of the KMP, local invasive features, and compressive effects of the tumor. Coexistence of KMP always represents aggressive tumor progression. Due to the rarity of this disease, current treatment recommendations are based on expert opinion and include combination pharmacologic management with Sirolimus, Vincristine, and/or systemic steroids.¹

References:

1. Ji, Y., Chen, S., Yang, K. et al. Kaposiform hemangioendothelioma: current knowledge and future perspectives. Orphanet J Rare Dis 15, 39 (2020).
2. Vivas-Colmenares GV, Ramirez-Villar GL, Bernabeu-Wittel J, Matute de Cardenas JA, Fernandez-Pineda I. The importance of early diagnosis and treatment of kaposiform hemangioendothelioma complicated by Kasabach-Merritt phenomenon. Dermatol Pract Concept. 2015;5(1):91-93. Published 2015 Jan 30. doi:10.5826/dpc.050118

Rob Grell, MD
Division of Pediatric Emergency Medicine
Department of Pediatrics
Emory University School of Medicine