An Unusual Case of Neonatal Langerhans Cell Histiocytosis Presenting with Diffuse Hemorrhagic Nodules and a Cutaneous Abdominal Mass.

Sir,

A 2-day-old male infant with respiratory distress, diffuse hemorrhagic cutaneous nodules [Figure 1], and a giant mass on the right flank [Figure 2] was transferred to our neonatal intensive care unit. He was born at 34 weeks and 6 days of gestation to a 30-year-old mother (gravida 2; para 2) by vaginal delivery. The American Pediatric Gross Assessment Record scores were 7 and 9 at 1 and 5 min, respectively.

Figure 1

Diffuse violaceous-purpuric firm papules and nodules with hemorrhagic crust on palms and plantar feet

Figure 2

On the right abdomen there was a 4.5 × 3 × 1.5-cm3 well-defined large nodule

Hematoxylin and eosin (H and E) staining of the specimen of a hemorrhagic nodule from the left sole indicated a dense cellular infiltrate composed of intermediate-to-large mononuclear cells with grooved, wreath-like nuclei [Figure 3a and b]. Immunohistochemical staining indicated positive results for CD1a and S100 [Figure 3c and d], consistent with a diagnosis of cutaneous Langerhans cell histiocytosis (LCH). The abdominal flank mass was also excised, and examination of this specimen yielded the similar findings [Figure 4].

Figure 3

Hematoxylin and eosin stain of the skin biopsy specimen of the sole indicated a dense cellular infiltrate composed of intermediate to large mononuclear cells, (a, ×100) with round, grooved, wreath-like nuclei extending from the mid-dermis to the subcutaneous tissue (b, ×400). Immunohistochemical staining was positive for CD1a (c) and S100 (d) (×400)

Figure 4

Hematoxylin and eosin stain of the excisional biopsy specimen of the abdomen revealed a dense cellular infiltrate (a, ×100) composed of mononuclear cells (b, ×400). Immunohistochemical staining was positive for CD1a (c, ×400)

Hematologic examinations indicated anemia and elevation of lactate dehydrogenase (LDH) levels to 477 U/L (normal range, 140–280 U/L). Computed tomography (CT) of the chest indicated diffusely distributed nodules and cystic interstitial changes. Bone surveys, bone marrow aspiration, and CT of the head and abdomen yielded normal results. Tests for detecting congenital infections indicated normal or negative findings.

For treatment, systemic therapy consisting of methotrexate, systemic steroid, and vincristine was initiated immediately after diagnosis. The skin lesions progressively resolved and the LDH levels decreased. The child has been followed clinically for 14 months, and he has shown no evidence of skin lesions and his pulmonary function is in a stable condition.

Case of neonatal LCH is very rarely observed, and the calculated incidence of LCH in infants is 25 per 1 million infants, and <5% of these cases are found to be neonates.[1] Although cases of neonatal LCH presenting as a blueberry muffin baby or mimicking neonatal hemangiomatosis have been reported,[23] a combination of diffuse hemorrhagic nodules and a giant cutaneous mass has not been published.

Due to elevation of LDH, lung and cutaneous involvement, our case can be classified as disseminated LCH. The incidence of neonatal disseminated LCH reported in recent studies is greater than that previously reported.[14] It shows the rising interest in this subtype of LCH and indicates a justifiable doubt about the underdiagnosis of neonatal disseminated LCH. A previous study has indicated that almost 50% of neonates with disseminated LCH usually die.[4] Therefore, a thorough work-up is essential to exclude systemic involvement and may require closer follow-up and monitoring than previously recommended, particularly in the 1st year of life when relapses and systemic involvement occur most frequently.[5]

The clinical stratification of LCH based on the extent of the disease is an influential factor in therapeutic decisions. Although spontaneous regression of skin and lung involvement has been reported, early intervention is recommended when high risk organs (lungs, liver, spleen, and hematological system) are involved. In the present case, systemic chemotherapy was administered at an early stage due to diffuse lung involvement with respiratory distress and the disease was successfully controlled.

We recommend the prompt initiation of treatment in cases of multisystemic disease, as the mortality rate in neonates with disseminated LCH is high.