Pediatric Annals

CME 

A 7-Week-Old Boy with Violaceous Patches and Skin Nodules

Adam Whittington, BA; Brandi Kenner-Bell, MD

Abstract

A 7-week-old boy presented to the pediatric dermatology clinic for evaluation of diffuse blue lesions on the skin. The mother first noticed a bluish lesion on the left thigh at 6 to 7 weeks of age. The child quickly developed several similar lesions and deeper nodules on the head, arms, and trunk. He had a history of ankyloglossia and subsequent uncomplicated repair, as well as a sister with neonatal anemia. He was otherwise well and thriving. Review of systems was unremarkable. His birth involved an uncomplicated delivery, with negative maternal serology. There was no history of maternal infection or recent exposure to infection.

Physical exam revealed a well-appearing, non-dysmorphic, vigorous infant. Skin exam was notable for numerous dusky erythematous and violaceous-blue patches and nodules on the anterior scalp, bilateral arms, legs, face, and trunk — including the diaper area. Lesions ranged in size from 1 to 3 cm. The nodules were firm and non-tender. The remainder of his physical examination was normal without abnormal lymphadenopathy or hepatosplenomegaly noted. No mucosal lesions were noted. A biopsy was performed on a thigh lesion.

Abstract

A 7-week-old boy presented to the pediatric dermatology clinic for evaluation of diffuse blue lesions on the skin. The mother first noticed a bluish lesion on the left thigh at 6 to 7 weeks of age. The child quickly developed several similar lesions and deeper nodules on the head, arms, and trunk. He had a history of ankyloglossia and subsequent uncomplicated repair, as well as a sister with neonatal anemia. He was otherwise well and thriving. Review of systems was unremarkable. His birth involved an uncomplicated delivery, with negative maternal serology. There was no history of maternal infection or recent exposure to infection.

Physical exam revealed a well-appearing, non-dysmorphic, vigorous infant. Skin exam was notable for numerous dusky erythematous and violaceous-blue patches and nodules on the anterior scalp, bilateral arms, legs, face, and trunk — including the diaper area. Lesions ranged in size from 1 to 3 cm. The nodules were firm and non-tender. The remainder of his physical examination was normal without abnormal lymphadenopathy or hepatosplenomegaly noted. No mucosal lesions were noted. A biopsy was performed on a thigh lesion.

A 7-week-old boy presented to the pediatric dermatology clinic for evaluation of diffuse blue lesions on the skin. The mother first noticed a bluish lesion on the left thigh at 6 to 7 weeks of age. The child quickly developed several similar lesions and deeper nodules on the head, arms, and trunk. He had a history of ankyloglossia and subsequent uncomplicated repair, as well as a sister with neonatal anemia. He was otherwise well and thriving. Review of systems was unremarkable. His birth involved an uncomplicated delivery, with negative maternal serology. There was no history of maternal infection or recent exposure to infection.

Physical exam revealed a well-appearing, non-dysmorphic, vigorous infant. Skin exam was notable for numerous dusky erythematous and violaceous-blue patches and nodules on the anterior scalp, bilateral arms, legs, face, and trunk — including the diaper area (Figures 13). Lesions ranged in size from 1 to 3 cm. The nodules were firm and non-tender. The remainder of his physical examination was normal without abnormal lymphadenopathy or hepatosplenomegaly noted. No mucosal lesions were noted. A biopsy was performed on a thigh lesion.

Left trunk with blue flat patches.Images courtesy of Brandi Kenner-Bell, MD.

Figure 1.

Left trunk with blue flat patches.

Images courtesy of Brandi Kenner-Bell, MD.

Leg with blue bruise-like patches.

Figure 2.

Leg with blue bruise-like patches.

Lower abdomen and proximal left leg with blue patches.

Figure 3.

Lower abdomen and proximal left leg with blue patches.

Diagnosis:

Leukemia Cutis

Discussion

This patient’s biopsy revealed an atypical hematopoietic infiltrate that was consistent with leukemia cutis. He was diagnosed with acute myeloid leukemia (AML) with the mixed-lineage leukemia (MLL) gene rearrangement and is currently being treated.

Leukemia cutis (LC) is a dermal sign of leukemia and signifies neoplastic infiltration into the skin or subcutaneous tissues.1–2 As such, it can also be classified as a cutaneous myelosarcoma. LC may be seen in a variety of childhood leukemias including AML, acute lymphoblastic leukemia (ALL), and chronic myeloid leukemia (CML).1–3 Cutaneous leukemic involvement occurs in 3% to 30% of cases of leukemia, most frequently observed with myeloid variants.1 Although the risk factors are unknown, genetic abnormalities are often associated.3 Commonly, the MLL gene — a proto-oncogene that regulates hematopoiesis4 — is rearranged and portends a poor prognosis.3,5–6

LC most commonly presents as violaceous, erythematous, red-brown, or flesh-colored papules and nodules with a firm or rubbery consistency (Figure 4).1–2 However, the appearance can be highly variable, with reports of plaques, purpura, ulcers, and urticaria, among other lesion types.2 Unique presentations have included hyperpigmented macules demonstrating Darier’s sign and seborrheic dermatitis-like lesions.7,8 Notably, LC may be the only sign of leukemia, even after diagnostic work-up has been performed. This is termed “aleukemic leukemia cutis.”2

A 10 month old infant with LC diagnosed with ALL after presentation with these firm erythematous skin nodules.

Figure 4.

A 10 month old infant with LC diagnosed with ALL after presentation with these firm erythematous skin nodules.

The differential diagnosis of violaceous patches and nodules in an infant includes sepsis, neuroblastoma, histiocytosis, transient myeloproliferative disorders, hemolytic disease of the newborn, hereditary spherocytosis, and TORCH viral infections (toxoplasmosis, parvovirus B19, rubella, cytomegalovirus and herpes viruses).1,3 Classic presentations may help clarify the etiology. Histiocytosis can present with recalcitrant crusted and erosive scalp and intertriginous lesions, often in a seborrheic dermatitis distribution.1 Rubella may cause characteristic blueberry muffin lesions with deafness, cataracts, and cardiac defects, whereas herpes virus causes fever and vesicles on an erythematous base after vaginal birth. Even with a prototypical appearance, other tests are often needed for diagnosis of these infants.

Skin biopsy may narrow the differential; LC demonstrates leukemic infiltrates disrupting collagen bundles and skin adnexa.9 The diagnosis of LC must be confirmed by additional laboratory tests; bone marrow aspirates and blood smears are essential.1,3,5,9 Identification of genetic abnormalities is also important since tests such as immunophenotyping and genotyping may uncover information relevant to treatment and prognosis.3,5

Multi-drug chemotherapeutics aimed at the underlying leukemia is a common treatment for LC; regimens vary by stratification of the cancer.2,5 Although uncommon, local radiation therapy has also been utilized in conjunction with systemic therapy in an attempt to improve outcome.10 Overall, prognosis of LC is poor, with 25% and 13% survival rates for AML and ALL, respectively5,11. However, there have been reports that describe spontaneous remission.6,12 Long-term follow-up is required, as patients may relapse.1,5

References

  1. Paller AS, Mancini AJ. Hurwitz Clinical Pediatric Dermatology: A Textbook of Skin Disorders of Childhood and Adolescence. 4th ed. Edinburgh; New York, NY: Elsevier Saunders; 2011.
  2. Ratnam KV, Khor CJ, Su D. Leukemia Cutis. Dermatol Clin. 1994;12(2):419–431.
  3. Sande JE, Arceci RJ, Lampkin BC. Congenital and neonatal leukemia. Semin Perinatol. 1999;23(4):274–285. doi:10.1016/S0146-0005(99)80036-6 [CrossRef]
  4. Artinger EL, Mishra BP, Zaffuto KM, et al. An MLL-dependent network sustains hematopoiesis. Proc Natl Acad Sci USA. 2013;110(29):12000–12005. doi:10.1073/pnas.1301278110 [CrossRef]
  5. Van der Linden MH, Creemers S, Pieters R. Diagnosis and management of neonatal leukaemia. Semin Fetal Neonatal Med. 2012;17(4):192–195. doi:10.1016/j.siny.2012.03.003 [CrossRef]
  6. D’Orazio JA, Pulliam JF, Moscow JA. Spontaneous resolution of a single lesion of myeloid leukemia cutis in an infant: case report and discussion. Pediatr Hematol Oncol. 2008;25(5):457–468. doi:10.1080/08880010802104494 [CrossRef]
  7. Yen A, Sanchez R, Oblender M, Raimer S. Leukemia cutis: Darier’s sign in a neonate with acute lymphoblastic leukemia. J Am Acad Dermatol. 1996;34(2 Pt 2):375–378. doi:10.1016/S0190-9622(07)80012-0 [CrossRef]
  8. Friedlander SF, West A, Eichenfield LF. Isolated leukemia cutis presenting as “seborrheic dermatitis.”Clin Pediatr (Phila). 1996;35(10):531–534. doi:10.1177/000992289603501008 [CrossRef]
  9. Buechner SA, Li C, Su D. Leukemia cutis: A histopathologic study of 42 cases. Am J Dermatopath. 1985;7(2):109–119. doi:10.1097/00000372-198504000-00002 [CrossRef]
  10. Majd NK, Jain SK, Murphy MC, et al. Total skin electron beam radiation in a pediatric patient with leukemia cutis: a case report. J Pediatr Hematol Oncol. 2012;34(7):556–558. doi:10.1097/MPH.0b013e3182678e9f [CrossRef]
  11. Bresters D, Reus AC, Veerman AJ, et al. Congenital leukaemia: the Dutch experience and review of the literature. Br J Haematol. 2002;117(3):513–524. doi:10.1046/j.1365-2141.2002.03459.x [CrossRef]
  12. Grundy RG, Martinez A, Kempski H, Malone M, Atherton D. Spontaneous remission of congenital leukemia: a case for conservative treatment. J Pediatr Hematol Oncol. 2000;22(3):252–255. doi:10.1097/00043426-200005000-00011 [CrossRef]
Authors

Adam Whittington, BA, is a Medical Student, Northwestern University Feinberg School of Medicine. Brandi Kenner-Bell, MD, is Assistant Professor, Department of Pediatrics and the Division of Dermatology, Ann & Robert H. Lurie Children’s Hospital of Chicago, Northwestern University Feinberg School of Medicine.

Address correspondence to: Brandi Kenner-Bell, MD, Department of Pediatrics and the Division of Dermatology, Ann & Robert H. Lurie Children’s Hospital of Chicago, 225 East Chicago Avenue, Chicago, IL 60611; email: bkenner-bell@luriechildrens.org.

Disclosure: The authors have no relevant financial relationships to disclose.

10.3928/00904481-20131223-15

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