Congenital Langerhans Cell Histiocytosis Research Articles

The Placenta in Congenital Langerhans Cell Histiocytosis: A Case Report of Unusual Involvement of Chorionic Plate and Umbilical Vein.

The congenital presentation of Langerhans cell histiocytosis (LCH) is a rare presentation of an uncommon neoplastic process. Concurrent placental parenchymal involvement is even more rare, with just 2 cases of congenital multisystem LCH with placental involvement reported in English medical literature thus far. Here, we present a case of a liveborn male born at 37-weeks, 6-day gestation with congenital LCH focally involving the placenta. Langerhans cells were identified in an area of the placenta showing an unusual mononuclear cell infiltrate in the wall of the umbilical vein. Langerhans cells were also focally identified in areas of chronic villitis, as well as normal-appearing chorionic plate. The examination of the placenta in cases of clinical suspicion of LCH can be of paramount importance since it may provide the early diagnostic evidence of LCH. In this context, placental involvement by LCH should be considered even in the absence of abnormal histology.

Unique Case of Congenital Langerhans Cell Histiocytosis Presenting as Intrauterine Fetal Demise

Congenital Langerhans cell histiocytosis (LCH) (formerly called Letterer–Siwe disease) is characterized by a clonal proliferation of Langerhans cells occurring in children at birth and manifests typically with multifocal cutaneous lesions, hepatosplenomegaly, lymphadenopathy, pulmonary lesions, and destructive osteolytic bone lesions. We present a case of LCH involving multiple systems high-risk organs (LCH MS-RO+), in a 32-week stillborn from a 20-year-old G2A1. The fetus was mildly hydropic and pale. Apart from maceration, the skin showed multiple targetoid lesions over the face, trunk, and limbs. There was hepatosplenomegaly and a pale brain. The placenta was large and bulky. Despite severe autolysis, histological examination showed disseminated histiocytes with multinucleated giant cells in the skin, lungs, thymus, mesenteric lymph nodes, spleen, and brain. By immunohistochemistry, the histiocytes were positive for S100, CD1a, and Langerin (CD207), confirming the diagnosis of LCH. There was extramedullary hematopoiesis in the spleen, brain, and placenta. Targeted next-generation sequencing performed on thymic DNA did not show the BRAF p.V600E variant but did show the MAP2K1 p.F53_Q58delinsL. Infants with LCH pose a diagnostic challenge due to their heterogeneous presentations. Our case is unusual in that the newborn presented with severe multiorgan involvement including brain and intrauterine death. LCH is still poorly understood requiring further genetic and molecular studies.

Congenital self-healing Langerhans cell histiocytosis presented as ‘purpura-like skin lesions'

At birth, a newborn boy had disseminated purplish patches varying in size from 3 to 5 mm (Fig. 1A). There was no involvement of the mucomembranous surface, lymph nodes, and liver. He was active and stable. A prompt punch biopsy of a representative lesion revealed intensive infiltration of the Langerhans cells that were positive for CD1α and S-100 (Fig. 1B–D). The patient was diagnosed with congenital Langerhans cell histiocytosis (LCH). Laboratory results including complete blood cell count; blood chemistry results; coagulation; antibodies for HAV, HBV, HCV, rubella, HSV, HIV, and syphilis; and blood cultures were normal.

BRAF V600E-Positive Congenital Multisite Langerhans Cell Histiocytosis

Congenital Langerhans cell histiocytosis (LCH) usually manifests as a disease limited to the skin, with self-healing characteristics; however, in some cases, it may be a more severe entity, with multisystemic expression and poor prognosis. We present the case of a patient diagnosed with multisystemic congenital LCH, with the presence of the BRAF V600E mutation, with a severe form of the disease, with risk organ compromise, and manifestations of resistance to chemotherapy. This case is a challenge due to the disease's biologically aggressive behavior in this patient. It presents unique treatment difficulties as a result of inherent resistance to conventional therapy and uncertain response to BRAF inhibitors.

Congenital Langerhans cell histiocytosis in a healthy neonate having isolated cutaneous involvement with unusual rapid progression

The Journal is the primary organ of Continuing Paediatric Medical Education in Sri Lanka. The journal also has a website. Free full text access is available for all readers.The Sri Lanka Journal of Child Health is now indexed in SciVerse Scopus (Source Record ID 19900193609), Index Medicus for South-East Asia Region (IMSEAR), CABI (Centre for Agriculture and Bioscience International Global Health Database), DOAJ and is available in Google, as well as Google Scholar.The policies of the journal are modelled on the Committee on Publication Ethics (COPE) Guidelines on Principles of Transparency and Best Practice in Scholarly Publishing. Sri Lanka Journal of Child Health is recognised by the International Committee of Medical Journal Editors (ICMJE) as a publication following the ICMJE Recommendations.

Congenital Langerhans Cell Histiocytosis Presenting as Neonatal Papulovesicular Eruption

Congenital self-healingLangerhans cell histiocytosis (CSHLCH) is a rare type of Langerhans Cell Histiocytosis, presenting at birth or during the neonatal period. It is usually characterized by the eruption of multiple, discrete, red-brown papules or nodules which may increase in size and number during the first few weeks of life with spontaneous regression.Congenital LCH has rarely been reported to present as a papulovesicular eruption at birth. Here we describe a male baby presenting with papulovesicular eruption at birth who rapidly developed pulmonary infiltrates and multiple osteolytic lesions in skull and long bones after spontaneous regression of cutaneous lesion.

A case of congenital Langerhans cell histiocytosis with disseminated skin and pulmonary involvement masquerading as multiple infantile hemangiomas

A case of congenital Langerhans cell histiocytosis with disseminated skin and pulmonary involvement masquerading as multiple infantile hemangiomas

A Fatal Case of Congenital Langerhans Cell Histiocytosis with Disseminated Cutaneous Lesions in a Premature Neonate.

Background. The outcome of neonates with congenital cutaneous Langerhans cell histiocytosis (LCH) is variable. Observations. We report a case of LCH in a female premature neonate born at 33-week gestation. She had disseminated cutaneous lesions, which consisted of hemorrhagic papules and vesicles, with sparse healthy skin areas, and the hands and feet were contracted with scarring and blackened. She was in respiratory failure although no apparent pulmonary or bone lesions on X-rays were noted. Skin biopsy confirmed a diagnosis of LCH due to observation of CD1a+ Langerhans cells, which lacked expression of E-cadherin and CD56. The patient died 57 hours after birth. Conclusions. Based on this case and the literature survey, the outcome of premature babies with congenital cutaneous LCH lesions is noted to be unfavorable, with the majority of such cases suffering from multisystem disease.

Digestive Tract Symptoms in Congenital Langerhans Cell Histiocytosis

Congenital Langerhans cell histiocytosis is usually limited to cutaneous lesions and has a good prognosis. In rare cases of gut involvement, mortality is high and early and aggressive treatment essential. We report a case of histiocytosis in a newborn with bowel involvement, and performed a literature review of 13 similar cases worldwide documented between 1973 and 2008. Skin eruptions are usually the initial symptoms at birth. Bloody stools or protein-losing enteropathy are the first signs of bowel involvement that appear mostly in the first 4 weeks of life. Risk organs (hematopoietic system, liver, spleen) are often affected in the newborns with intestinal Langerhans cell histiocytosis. Prognosis is usually poor, with 78.5% mortality. Even if histiocytosis in a neonate appears limited to autoinvoluting skin lesions, it is important to exclude all other organ involvement, including the bowel and stomach, as early treatment is vital.

Congenital Langerhans Cell Histiocytosis with Placental Involvement

Congenital presentations of Langerhans cell histiocytosis (LCH) are exceedingly rare, and concurrent placental parenchymal involvement has not been definitively documented in the literature. We present 2 cases of congenital multisystem LCH with placental involvement resembling chronic villitis. Placental examination may provide the initial diagnostic evidence of LCH and may significantly influence patient management and outcome; however, the prognostic implications remain unclear. In a clinical context suspicious for congenital LCH, the observation of chronic villitis should prompt consideration of placental involvement by LCH.

Identification of the V600D mutation in Exon 15 of the BRAF oncogene in congenital, benign langerhans cell histiocytosis

Langerhans cell histiocytosis (LCH) is a well-known but rare disease that may occur at any age with markedly variable clinical features: self-regressive, localized, multiorgan, aggressive, or fatal outcome. Congenital LCH is rare and often clinically benign. While LCH is characterized by a clonal proliferation of Langerhans cells, its etiology is unknown. Although BRAF V600E mutations were recently identified as a recurrent genetic alteration in LCH cases, the clinical significance of this mutation within the heterogeneous spectrum of LCH is also currently unknown. We studied a cutaneous, benign form of congenital LCH that occurred in a newborn male, without recurrence for 8 years. Histopathologically, the skin lesion excised after birth showed the typical cytologic and immunophenotypic features of LCH. Sequencing analysis of Exon 15 of the BRAF gene revealed the V600D mutation, with an allelic abundance of 25-30%, corresponding to the LCH cells being hemizygous for the mutant allele. BRAF V600E-specific polymerase chain reaction was negative. Our report is the first to identify the rare, variant BRAF V600D mutation in LCH, and provides support for constitutively activated BRAF oncogene-induced cell senescence as a mechanism of regression in congenital, benign LCH. Further, our clinicopathologic findings provide proof for the first time that the V600D mutation can also occur in the absence of ultraviolet light, and can occur in a clinically benign proliferation, similar to the V600E mutation. Additional clinicopathologic studies in larger numbers of LCH patients may be valuable to ascertain the pathophysiologic role of BRAF mutations in LCH.

Congenital Langerhans cell histiocytosis involving only one of non-identical twins

ejd.2011.1402 Auteur(s) : Rosa Fernandez-Torres1 rosaftorres@gmail.com, Elena Granero2, Sabela Paradela1, Eduardo Fonseca1 1 Department of Dermatology, CHUA Coruna, Xubias de Arriba 84, 15006 A Coruna, Spain 2 Department of Pathology, Hospital La Paz, Paseo Castellana 261, 28046 Madrid, Spain Langerhans cell histiocytosis (LCH) encompasses a spectrum of diseases with heterogeneous clinical manifestations and prognosis. Congenital LCH with systemic involvement (Letterer-Siwe disease) is very uncommon, [...]

皮膚病変と消化管浸潤による著しい発育障害を合併した先天性Langerhans cell histiocytosisの1例

皮膚病変と消化管浸潤による著しい発育障害を合併した先天性Langerhans cell histiocytosisの1例

Exploring the Differential Diagnosis of Hemorrhagic Vesicopustules in a Newborn

Hemorrhagic vesicles in a newborn present a challenging differential diagnosis including both infectious and neoplastic disorders. Patients should be evaluated in an efficient manner to arrive at the correct diagnosis as quickly as possible. We present here an interesting case that outlines the methodical workup that ultimately revealed the diagnosis of congenital Langerhans cell histiocytosis. After a diagnosis of Langerhans cell histiocytosis is made, it is important to evaluate the patient thoroughly for systemic involvement. Historically, the diagnosis of congenital self-healing Langerhans cell histiocytosis was used to delineate a benign self-limited disorder limited to the skin with spontaneous resolution during the first several months of life; this disorder may also be referred to as "self-regressive Langerhans cell histiocytosis." However, some newborns with initial skin-only Langerhans cell histiocytosis progress to have multisystem disease after spontaneous resolution has occurred. For this reason, the nomenclature is changing. We suggest using the term "skin-only Langerhans cell histiocytosis." Periodic long-term follow-up is recommended to monitor for relapse or progression to systemic disease.

Role of PET/CT in congenital histiocytosis

Congenital Langerhans cell histiocytosis (LCH) is a rare, but often severe, form of LCH. Although a more benign single-system congenital LCH has been described, most cases present as multisystem disease with poorer prognosis and are often treated with systemic chemotherapy. Imaging plays a central role in diagnosis, initial staging and assessment of treatment response. PET/CT is increasingly utilized for pediatric LCH. We report a unique case with PET/CT used as an imaging tool in staging and evaluating treatment response in congenital multisystem LCH.

Congenital Langerhans cell histiocytosis with skin and lung involvement: Spontaneous regression

Congenital self-healing Langerhans cell histiocytosis (CSHLCH) is a rare type of Langerhans Cell Histiocytosis, presenting at birth or during the neonatal period with eruption of multiple, discrete red-brown papules or nodules that undergo spontaneous regression. Systemic signs are generally absent. We describe a 4-month-old infant presenting with reddish brown nodular cutaneous lesions since birth with a past history suggestive of pulmonary involvement. Skin biopsy showed a dermal infiltrate of pleomorphic histiocytes; which were CD1a and S-100 positive, consistent with the diagnosis of CSHLCH. Both pulmonary and cutaneous lesions showed spontaneous resolution.

Congenital Solid Thigh Mass: A Report of Nonself Healing Form of Langerhans Cell Histiocytosis

Langerhans cell histiocytosis (LCH) is very rarely seen in the pediatric age group. Self-healing is the usual clinical course in congenital LCH with cutaneous involvement. We describe a newborn with a solid mass in his thigh noticed at birth, without skin manifestations. LCH should be considered in the differential diagnosis of congenital solid masses.

Congenital Langerhans Cell Histiocytosis Mimicking a “Blueberry Muffin Baby”

Congenital Langerhans cell histiocytosis (LCH) is a rare condition with great diversity. A case of congenital skin-only LCH presenting as a "blueberry muffin baby" with a spontaneous regression by the age of 8 months is reported here. New insights into clinical manifestations and prognosis, which is not uniformly positive, are discussed. A thorough examination and a careful follow-up should be provided to these patients. Systemic therapy is warranted in multi-system disease; no consensus on treatment exists in case of LCH isolated to skin. The diagnosis of congenital self-healing LCH should be made only retrospectively.

Congenital systemic Langerhans cell histiocytosis presenting as hydrops fetalis

Congenital Langerhans cell histiocytosis (LCH) encompasses a wide spectrum of disease involvement and severity. Congenital "self-healing" cutaneous LCH represents one end of the spectrum, whereas the case we encountered represents the other extreme. A rare case of congenital LCH with severe multiorgan involvement presenting as hydrops fetalis is described in this report. Hydrops fetalis has not previously been associated with congenital LCH. The overall clinical features of this infant closely mimicked those of disseminated congenital infection, and he ran a fulminant and rapidly fatal course. A high index of suspicion is required to diagnose congenital LCH in the early neonatal period. Hydrops fetalis is an ominous sign and probably reflects severe systemic disease compromising the well-being of the fetus.

Congenital systemic Langerhans cell histiocytosis presenting as hydrops fetalis

Congenital systemic Langerhans cell histiocytosis presenting as hydrops fetalis