Dermatology: Practical and Conceptual Research Letter | Dermatol Pract Concept. 2025;15(4):5858 1 Cutaneous and Orbital Myeloid Sarcoma as the Initial Clinical Presentation of Acute Myeloid Leukemia in an Infant Leonne Di Carlo Del Vecchio1, Jan Lapins2, Elizabeth Leocadia Fernandes1, Marcia Lanzoni de Alvarenga Lira1, Fernanda Magalhães1, Meliane Moleta3 1 Department of Dermatology, Taubaté University Hospital, Taubaté - São Paulo, Brazil 2 Department of Dermatology, Karolinska University Hospital and Karolinska Institutet, Stockholm, Sweden 3 Department of Dermatology, Mogi das Cruzes University, Mogi das Cruzes, São Paulo, Brazil Key words: Acute Myeloid leukemia, Cutaneous myeloid sarcoma, Chloroma, Granulocytic sarcoma, Pediatric leukemia Citation: Di Carlo Del Vecchio L, Lapins J, Fernandes EL, de Alvarenga Lira ML, Magalhães F, Moleta M. Cutaneous and Orbital Myeloid Sarcoma as the Initial Clinical Presentation of Acute Myeloid Leukemia in an Infant. Dermatol Pract Concept. 2025;15(4):5858. DOI: https://doi.org/10.5826/dpc.1504a5858 Accepted: April 17, 2025; Published: October 2025 Copyright: ©2025 Di Carlo Del Vecchio et al. This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial License (BY-NC-4.0), https://creativecommons.org/licenses/by-nc/4.0/, which permits unrestricted noncommercial use, distribution, and reproduction in any medium, provided the original authors and source are credited. Funding: None. Competing Interests: None. Authorship: All authors have contributed significantly to this publication. Corresponding Author: Leonne Di Carlo Del Vecchio, MD, Department of Dermatology, Taubaté University Hospital, Taubaté - São Paulo, Rua 15 de novembro, 371 - Centro, Taubaté - São Paulo, Brasil. ORCID ID: 0009-0009-4433-0160. E-mail: leonnedicarlo.derma@gmail.com Introduction Cutaneous myeloid sarcoma is a rare disease that predom- inantly occurs in association with myeloid malignancies, with a particularly high incidence in acute myeloid leukemia (AML). This paper presents a rare case of cutaneous and or- bital myeloid sarcoma in an infant without a prior diagnosis of AML, contributing to the limited literature on the subject. Case Presentation A five-month-old male infant presented with a three-month history of asymptomatic cutaneous lesions. The lesions ini- tially appeared on the abdomen and subsequently spread over the trunk and limbs, accompanied by a one-week period of swelling in the right lower eyelid. No fever, hemorrhage, or arthralgia was reported. On examination, erythematous-violaceous macules and patches were observed on the torso and extremities, along with painless nodules. An erythematous mass was noted in the lower right eyelid region (Figures 1A-B). Laboratory tests revealed anemia (hemoglobin 7.9 g/dL) and elevated lactic dehydrogenase (606 U/L), with negative HIV and hepatitis B/C serologies. A skin biopsy showed blue round cells infiltrating ves- sels, adnexals, and the interstitium, extending into the hy- podermis, with hyperchromatic nuclei and frequent mitosis, suggesting hematopoietic lineage (Figures 2A-C). Immuno- histochemical analysis was positive for CD45, CD43, CD4, and CD15, but negative for myeloperoxidase (MPO), CD34, 2 Research Letter | Dermatol Pract Concept. 2025;15(4):5858 CD117, and TdT, indicating a myeloid lineage consistent with cutaneous myeloid sarcoma. Bone marrow biopsy con- firmed acute myeloid leukemia. The patient received chemotherapy (cytarabine and daunorubicin), achieving disease-free status. Two years later, the patient's leukemia returned. A bone marrow transplant was successful, resulting in long-term remission. Discussion Myeloid sarcoma may occur with hematological conditions like AML, CML, myelodysplastic syndrome, or without prior diagnoses [1]. In the pediatric age group, infiltration of the skin is the most common extramedullary manifestation of myeloid sarcoma, affecting 12.3% of pediatric AML pa- tients, with higher prevalence in children under age one year [2]. The occurrence of orbital involvement in patients with AML is estimated to be between 3% and 9% and is most prevalent in young children [3]. Cutaneous myeloid sarcoma presents as papules, plaques, or nodules, typically on the trunk, head, neck, or extremities [4]. At histopathological examination, the leukemic infiltrate can be subtle and easily overlooked, and the rate of histo- pathological diagnostic error may be high, especially in pa- tients lacking a history of AML [5]. Thus, clinical suspicion together with immunohistochemical analysis is important for the correct diagnosis. Dermatoscopy of cutaneous myeloid sarcoma shows nonspecific features such as polymorphic vessels (dotted, linear, or serpentine) on a pink-to-violaceous stroma (Figure 2F). These patterns overlap with conditions like leukemia cutis or inflammatory dermatoses, making der- matoscopy a useful but nonspecific tool [6]. While it helps guide biopsy, definitive diagnosis depends on histopathology and immunohistochemistry. Figure 1. (A) Right eye displaying an erythematous mass in the lower eyelid region, extending to the medial portion of the sclera. (B) Close-up view of the affected area. (C-D) Clinical image showing erythematous-violaceous macular patches and the pres- ence of painless nodules that were detected upon palpation of the lower limbs. (E) Close-up view of erythematous-violaceous infiltrated lesions. (F) A dermatoscopic eval- uation of the disseminated erythematous-violaceous lesions discloses the presence of dotted vessels on a conspicuous violaceous background. However, no discernible ab- normality in the skin texture is observed. S4C Highlight AQ: There are no Part E or F in Figure 2. Please advise. Research Letter | Dermatol Pract Concept. 2025;15(4):5858 3 Conclusion Cutaneous myeloid sarcoma may precede bone marrow involvement and be the first sign of AML or its recur- rence. Prognosis is poor, particularly in pediatric cases [1]. Early detection is essential, as it can indicate imminent leukemia. Dermatologists play a key role in early diagno- sis, which is critical to initiating treatment and improving outcomes. References 1. Vasconcelos ERA, Bauk AR, Rochael MC. Cutaneous myeloid sarcoma associated with chronic myeloid leukemia. An Bras Dermatol. 2017;92(5 Suppl 1):50-52. DOI: 10.1590/abd1806- 4841.20176042. PMID: 29267445. 2. Xu LH, Wang Y, Chen ZY, Fang JP. Myeloid sarcoma is associ- ated with poor clinical outcome in pediatric patients with acute myeloid leukemia. J Cancer Res Clin Oncol. 2020;146(4):1011- 1020. DOI:10.1007/s00432-020-03128-7. PMID: 31919567. 3. Lo WP, Kuo CH, Kuo MT, Fang PC. Isolated conjunctival my- eloid sarcoma as a presenting sign of acute leukemia. Chang Gung Med J. 2010;33(4):334-337. PMID: 20584512. 4. Raja V, Bryant B, Bessman DJ, Alperin JB. Granulocytic sar- coma: presentation with nodal and skin involvement. J Clin On- col. 2004;22(10):2026-2027. DOI:10.1200/JCO.2004.06.103. PMID: 15143096. 5. de Arruda Câmara VM, Morais JC, Portugal R, da Silva Car- neiro SC, Ramos-e-Silva M. Cutaneous granulocytic sarcoma in myelodysplastic syndrome. J Cutan Pathol. 2008;35(9):876-879. DOI:10.1111/j.1600-0560.2007.00916.x. PMID: 18494822. 6. Sławińska M, et al. Dermoscopic features of leukemia cutis: case series. Indian J Dermatol. 2021;66(2):187-190. DOI:10.4103/ ijd.IJD_534_19. PMID: 34188276. Figure 2. (A) Histopathology reveals dermal infiltration of isolated round cells sur- rounding vessels, adnexal structures, and the interstitium (H&E staining). (B) Histo- pathology shows infiltration of isolated round cells extending into the hypodermis. (C) Hypodermal infiltration by blue round cells. (D) Dermal infiltration by small-to- medium-sized cells with hyperchromatic nuclei and a high nucleus-to-cytoplasm ratio.