A 2-day-old male patient born full-term via uncomplicated vaginal delivery was seen for multiple erythematous, scaly papules that were present at birth. Physical examination showed a well-appearing male with erythematous papules with scale on his scalp, face, trunk, and bilateral upper and lower extremities. A 4 mm punch biopsy was performed on one of the representative papules on his abdomen and subsequent histopathological tests showed multiple Langerhans cells in the papillary dermis with positive CD1a and Langerin stains. There was no extracutaneous involvement. A diagnosis of congenital self-healing Langerhans cell histiocytosis was made.
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A 2-day-old male patient was seen in consultation in the Neonatal Intensive Care Unit (NICU) for multiple erythematous, scaly papules that were present at birth. He was born full-term via uncomplicated vaginal delivery following a healthy pregnancy to two non-consanguineous parents. He was otherwise healthy. Physical examination showed a well-appearing male with erythematous papules with scale on his scalp, face, trunk, and bilateral upper and lower extremities (Figures 1 and 2). The axillae and inguinal folds were involved as well. A 4 mm punch biopsy was performed on one of the representative papules on his abdomen. A high-power view of the histopathology is shown in Figure 3.
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A skin biopsy showed multiple Langerhans cells in the papillary dermis with positive CD1a and Langerin stains shown in Figures 4 and 5, respectively. The pediatric hematology/oncology department was consulted and a systemic work-up did not find any extracutaneous involvement. The patient remained asymptomatic at 2-months of age with marked improvement of his skin lesions (Figure 6).
Langerhans cell histiocytosis (LCH) encompasses a group of reactive conditions in which activated Langerhans cells accumulate in tissues and induce tissue damage partially through cytokine production [1]. Historically eponyms such as “Letterer-Siwe disease” and “Hand-Schuller-Christian disease” were used to describe various clinical presentations. Today these descriptions are largely obsolete and have been replaced by a diagnosis of Langerhans cell histiocytosis with a description of the involved organ systems. Although any organ system may be involved the most commonly involved are skin and bone.
Congenital self-healing reticulhistiocytosis (CSHR) was first described by Hashimoto and Pritzker in 1973. Recognized as a benign variant of LCH, CSHR is an uncommon newborn cutaneous disease that presents at birth or soon after delivery [2]. Greater than 70 cases of CSHR have been reported in the literature, however, the true the incidence of CSHR may be underreported because of its high rate of spontaneous resolution and failure of being recognized clinically [3, 4]. CSHR has now been divided into a solitary and multi-nodular variant; the former was described by Berger in 1986. Both variants are characterized by asymptomatic, red, brown, or pink, crusted papulonodular and/or papulovesicular lesions with or without ulceration or erosion that can be seen on all cutaneous surfaces. Involvement is isolated to the skin with lesions typically ranging from 0.2 to 2.5 cm, yet lesions can reach up to 8 cm in diameter. These lesions may continue to grow after birth but tend to show signs of spontaneous self-resolution by 24 weeks.
As in other forms of LCH, cutaneous lesions in children with CSHR histologically demonstrate diffuse dermal infiltrates by pleomorphic histiocytes with generous eosinophilic ground-glass or foamy cytoplasm and reniform nuclei. The histiocytes also show positivity for protein S100 and CD1a after immunoperoxidase staining and exhibit the characteristic intra-cytoplasmic Birbeck granules on electron microscopy. However, electron miscroscopy is being used less often and immunoperoxidase staining with Langerin, an antigen recently shown to co-localize with Birbeck granules, is now being used along with staining for S100 and CD1a [5, 6].
Whereas there have been studies to investigate the diagnostic role of immunohistochemical staining and histologic criteria for LCH and its variants, there are no criteria other than clinical presentation that can reliably distinguish CSHR from disseminated LCH [4].
Although CSHR represents a benign cutaneous variant of LCH, the fact remains: CSHR is composed of Langerhans cells that may have the potential for development into the disseminated form of LCH. Also, it is important to acknowledge that there have been reports of patients with CSHR who have shown extracutaneous involvement, thus making it challenging to differentiate between benign CSHR and aggressive disseminated LCH [7, 8, 9]. One study reported that 59 percent of patients diagnosed with neonatal disseminated LCH had evidence of multi-organ failure and that 7 out of 18 patients who were initially diagnosed as having LCH with sole cutaneous involvement, eventually had disease progression that required systemic treatment [10].
For reasons described, it is important that the providers of patients with suspected CSHR consider the possibility that they may be dealing with a more aggressive, systemic variant of LCH and that a complete evaluation should be performed. These investigations should include a thorough physical exam with biopsy of lesions, complete hematologic panel and coagulation studies, liver function studies, urine osmolarity, complete skeletal radiographic survey, and chest radiographs [5]. Consultation with appropriate specialists may be integral in ruling out other organ involvement as well. Lastly, it is important for patients with CSHR to have long-term follow-up to assess the child for signs of disease recurrence, disease progression, or late-stage complications [7, 8, 9].
© 2010 Dermatology Online Journal