Congenital Self-Healing Reticulohistiocytosis Mimicking Diffuse Neonatal Hemangiomatosis

Abstract

Congenital self-healing reticulohistiocytosis (CSRH), a rare benign variant of Langerhans cell histiocytosis (LCH), is characterized by (a) congenital skin lesions, (b) a healthy infant with no systemic involvement, (c) the histopathologic finding of a Langerhans cell infiltrate and (d) spontaneous involution within the first year of life without sequelae. We report a Taiwanese girl born with widespread hemangioma-like lesions. The diagnosis of LCH was confirmed by finding a diffuse dermal infiltrate of S-100-protein- and OKT6 (CD1a)-positive mononuclear cells and the presence of Birbeck granules in 10% of the mononuclear cells ultrastructurally. The diagnosis of CSRH was further established by rapid and complete involution of the lesions in 3 months. No recurrence was noted for 7 years. Our case illustrates that CSRH can mimic diffuse neonatal hemangiomatosis clinically; thus, it is important to include CSRH in the differential diagnosis of congenital or neonatal hemangiomatosis.

Multisystemic Langerhans Cell Histiocytosis Mimicking Diffuse Neonatal Hemangiomatosis

“…Our case is unique in that the lesions mimicked diffuse neonatal hemangiomatosis clinically. This has been described in patients with congenital self‐healing reticulohistiocytosis , but not in those with acute, disseminated, and multisystemic disease, like the case that we report (skin, bone marrow, liver, and spleen affected), although the short follow‐up for previously reported cases of LCH resembling infantile hemangiomas (IHs) makes it difficult to conclude that these patients were not at risk of multisystemic involvement. Thus it is important to include LCH in the differential diagnosis of IH and to evaluate for systemic involvement even if the patient has no evidence of systemic disease.…”

Case for diagnosis

“…1-3 Four clinical subtypes, which share significant clinical overlap, are known: Letterer-Siwe disease, Hand-Schüller-Christian disease, eosinophilic granuloma and congenital self-healing reticulohistiocytosis (CSHRH) or Hashimoto-Pritzker disease. 1,4,5 Histopathological and immunohistochemical studies are essential for diagnosis showing a dermal infiltrate with predominance of large, round histiocytic cells with dense eosinophilic cytoplasm with eccentric, reniform nuclei and Langerhans cells stain positive for S100 and CD1a (Figure 3A). 1-8 …”

“…1,4,7 Its true incidence may be underestimated since spontaneous resolution often occurs before assessment by a dermatologist. 1,6,8 CSHRH classic features include 1) painless papules, nodules or plaques present at birth or during the first days of life; 2) spontaneous regression in months; and 3) proliferation of histiocytes with features of Langerhans cell.…”

“…4-5 Development of lesions in adulthood, as well as pulmonary and ocular involvement, are extremely rare. 9 CSHRH may eventually show multisystem recurrence with considerable increase in morbidity and mortality.…”

An unusual case of neonatal langerhans cell histiocytosis presenting with diffuse hemorrhagic nodules and a cutaneous abdominal mass

“…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,[ 2 3 ] a combination of diffuse hemorrhagic nodules and a giant cutaneous mass has not been published.…”