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International Ophthalmology Jun 2024Histiocytosis is one of the most challenging diseases in medical practice. Because of the broad spectrum of clinical manifestations, systemic involvements, unknown... (Review)
Review
PURPOSE
Histiocytosis is one of the most challenging diseases in medical practice. Because of the broad spectrum of clinical manifestations, systemic involvements, unknown etiology, and complex management, different types of histiocytosis are still a big question mark for us. Orbital histiocytosis is characterized by the abnormal proliferation of histiocytes in orbital tissues. It could affect the orbit, eyelid, conjunctiva, and uveal tract. Orbital histiocytosis can cause limited eye movement, proptosis, decreased visual acuity, and epiphora. In this study, we review the novel findings regarding the pathophysiology, diagnosis, and treatment of different types of histiocytosis, focusing on their orbital manifestations.
METHOD
This review was performed based on a search of the PubMed, Scopus, and Embase databases or relevant published papers regarding orbital histiocytosis on October 9th, 2023. No time restriction was proposed, and articles were excluded if they were not referenced in English.
RESULTS
391 articles were screened, most of them being case reports. The pathophysiology of histiocytosis is still unclear. However, different mutations are found to be prevalent in most of the patients. The diagnostic path can be different based on various factors such as age, lesion site, type of histiocytosis, and the stage of the disease. Some modalities, such as corticosteroids and surgery, are used widely for treatment. On the other hand, based on some specific etiological factors for each type, alternative treatments have been proposed.
CONCLUSION
Significant progress has been made in the detection of somatic molecular changes. Many case studies describe various disease patterns influencing the biological perspectives on different types of histiocytosis. It is necessary to continue investigating and clustering data from a broad range of patients with histiocytosis in children and adults to define the best ways to diagnose and treat these patients.
Topics: Humans; Histiocytosis; Orbital Diseases; Histiocytes
PubMed: 38902584
DOI: 10.1007/s10792-024-03179-6 -
Postgraduate Medical Journal Jun 2024Our objective in this study is to determine the atypical clinical presentations of cutaneous leishmaniasis (CL) patients diagnosed in Şanlıurfa province.
BACKGROUND
Our objective in this study is to determine the atypical clinical presentations of cutaneous leishmaniasis (CL) patients diagnosed in Şanlıurfa province.
METHODS
This retrospective study included 213 patients with atypical clinical presentations among 1751 patients diagnosed with CL between October 2019 and August 2022 in Şanlıurfa Oriental Boil Diagnosis and Treatment Center located in an endemic region for CL.
RESULTS
We found the prevalence of atypical CL to be 12.1%. The most common atypical lesions were lupoid 21 (9.8%), erysipeloid 16 (7.5%), impetiginous 16 (7.5%), recidivan 15 (7%), eczematous 15 (7%), ecthyma-like 13 (6.1%), pyoderma gangrenous-like 12 (5.6%), and sporotrichoid 12 (5.6%). Other lesions with atypical clinical presentations: chalazion-like, verrucous, dental sinus-like, psoriasiform, zosteriform, lymphoma-like, juvenile xanthogranuloma-like, volcano-like, paronychial, basal cell carcinoma-like, squamous cell carcinoma-like, herpes labialis-like, keratoacanthoma-like, chancriform, annular, lichenoid, mastocitoma-like, keloidal, epidermoid cyst-like, kaposi sarcoma-like, scar leishmaniasis, granulomatous cheilitis-like, mycetoma-like, molluscum contagiosum-like, discoid lupus erythematosus-like, and dermatofibroma-like.
CONCLUSIONS
In addition to the atypical clinical presentations previously reported, we also defined dermatofibroma-like, Kaposi sarcoma-like, dental sinus-like, juvenile xanthogranuloma-like, mastocytoma-like, and epidermoid cyst-like. It should be kept in mind that CL can clinically mimic many infectious, inflammatory, and neoplastic diseases, which should be considered in the differential diagnosis of long-term non-healing lesions, especially in endemic areas. Key message What is already known on this subject: CL is known as the great imitator disease in dermatology. What this study adds: In addition to the atypical clinical presentations previously reported, we also defined dermatofibroma-like, Kaposi sarcoma-like, dental sinus-like, juvenile xanthogranuloma-like, mastocytoma-like, and epidermoid cyst-like. How this study might affect research, practice, or policy: CL can clinically mimic many infectious, inflammatory and neoplastic diseases, which should be considered in the differential diagnosis of long-term non-healing lesions, especially in endemic areas.
PubMed: 38899808
DOI: 10.1093/postmj/qgae075 -
Journal of Pediatric Hematology/oncology Jun 2024Juvenile Xanthogranuloma (JXG) is a non-Langerhans cell histiocytosis, occurring mainly in infancy. With an extracutaneous lesion, its diagnosis is difficult, because of...
BACKGROUND
Juvenile Xanthogranuloma (JXG) is a non-Langerhans cell histiocytosis, occurring mainly in infancy. With an extracutaneous lesion, its diagnosis is difficult, because of a wide clinical spectrum. Here we demonstrate and characterize imaging features of 11 patients with JXG of the head and neck in various locations.
MATERIAL AND METHODS
We recorded clinical data and reviewed all imaging studies of 11 patients with JXG of the head and neck. Ultrasonography (US) alone was performed in 1 patient; MRI alone in 6 patients; US and MRI in 1 patient; and US, CT, and MRI in 3 patients. We evaluated the following characteristics in all studies: location and number of lesions, echogenicity and vascularization on US, density on CT, signal intensity on T1- and T2-weighted images, ADC and enhancement on MRI, and tumor boundaries and bone involvement.
RESULTS
Lesions were well-defined in 9 cases, and bone erosion was present in 2. On US, lesions were hypoechoic or hyperechoic and with or without vascularization. On CT, lesions were hyper-dense, with no calcification. On MRI, lesions were mildly hyper-intense or iso-intense on T1-weighted images in 8 of 9 patients, hypo-intense on T2-weighted images in 7 of 10, low ADC in 7 of 9, and enhancement in 7 of 7.
CONCLUSIONS
The diagnosis of extra cutaneous JXG may be proposed, with the following suggestive criteria: age < 1 year, well-defined lesion, mild hyper-intensity on T1-weighted images, hypo-intensity on T2-weighted images, low ADC, enhancement, and possible adjacent bone involvement.
PubMed: 38832444
DOI: 10.1097/MPH.0000000000002872 -
International Journal of Dermatology May 2024
PubMed: 38773781
DOI: 10.1111/ijd.17263 -
Dermatology Online Journal Mar 2024Juvenile xanthogranuloma is the most frequent form of non-Langerhans cell histiocytosis in children. Clinically, it presents as well defined, yellowish papules that are...
Juvenile xanthogranuloma is the most frequent form of non-Langerhans cell histiocytosis in children. Clinically, it presents as well defined, yellowish papules that are typically located on the head, neck, upper trunk, and proximal region of the extremities. Although solitary lesions are the most common presentation, few cases of multiple juvenile xanthogranuloma have been described, more frequently associated with extracutaneous involvement. We report a 2-month-old girl with 22 cutaneous papules, clinically and histologically compatible with juvenile xanthogranulomas. Screening of visceral involvement was performed with no evidence of systemic disease. Identifying high-risk factors of systemic disease in patients with multiple juvenile xanthogranuloma is essential to perform an appropriate management of this entity.
Topics: Humans; Xanthogranuloma, Juvenile; Female; Infant
PubMed: 38762861
DOI: 10.5070/D330163291 -
Acta Chirurgiae Plasticae 2024Juvenile xanthogranuloma (JXG) is a rare, benign non-Langerhans cell histiocytosis that primarily affects the skin, with infrequent extracutaneous manifestations....
Juvenile xanthogranuloma (JXG) is a rare, benign non-Langerhans cell histiocytosis that primarily affects the skin, with infrequent extracutaneous manifestations. Lesions typically emerge during early childhood and often resolve spontaneously, obviating the need for treatment. This paper details the case of a child diagnosed with a solitary JXG on the sole, necessitating surgical excision due to its functional impairment, specifically a delay in walking and weight bearing.
Topics: Humans; Xanthogranuloma, Juvenile; Infant, Newborn; Foot; Male; Female
PubMed: 38704235
DOI: 10.48095/ccachp202427 -
Head and Neck Pathology Apr 2024Juvenile xanthogranuloma (JXG) is the most common form of non-Langerhans cell histiocytosis in childhood. It often presents with cutaneous involvement and exhibits a...
Juvenile xanthogranuloma (JXG) is the most common form of non-Langerhans cell histiocytosis in childhood. It often presents with cutaneous involvement and exhibits a predilection for the head and neck region. This article illustrates a case of congenital JXG in a 5-month-old boy, characterized by a solitary, well-circumscribed nodule above the left upper lip. Histopathologically, the lesion exhibited histiocytes with eosinophilic cytoplasm and Touton giant cells. Immunohistochemistry revealed histiocytes positive for CD68 and Factor XIIIa, while negative for S-100 protein. Clinicians should become familiar with the broad clinical spectrum of cutaneous JXG, particularly its congenital presentation, in order to ensure timely and accurate management.
Topics: Humans; Xanthogranuloma, Juvenile; Male; Infant
PubMed: 38687428
DOI: 10.1007/s12105-024-01649-y -
Ophthalmic Plastic and Reconstructive... Apr 2024Juvenile xanthogranuloma (JXG) is a subtype of histiocytosis characterised histologically by foamy non-Langerhan cells with Touton giant cells. It typically manifests as...
PURPOSE
Juvenile xanthogranuloma (JXG) is a subtype of histiocytosis characterised histologically by foamy non-Langerhan cells with Touton giant cells. It typically manifests as a single self-limiting cutaneous nodule in the paediatric population. Orbital JXG is extremely rare, and its clinical course and management are not well understood or defined. Herein we present 3 cases of orbital JXG and provide a detailed literature review.
METHODS
Review of 3 cases with orbital JXG and literature review of all published cases.
RESULTS
Three presented cases demonstrate the heterogeneous clinical course of orbital JXG. Although centred around the use of steroids, there is neither robust evidence nor consensus on its management. The wider JXG literature is currently concentrated around the classification of JXG with respect to histiocytosis, especially the exclusion of extracutaneous JXG as separate diseases. This separation is based on clinical, histopathological, and molecular findings. It is unclear where orbital JXG best fits in this emerging classification of JXG.
CONCLUSION
Our review of the cases and literature on orbital JXG show that it may manifest with variable clinical course and its molecular pathogenic mechanism may be different to that of the cutaneous JXG.
PubMed: 38687290
DOI: 10.1097/IOP.0000000000002696 -
Pediatric Blood & Cancer Jul 2024Here, we describe two patients with juvenile xanthogranuloma (JXG) manifesting with Langerhans cell histiocytosis (LCH)-associated neurodegenerative disease (ND)-like...
Here, we describe two patients with juvenile xanthogranuloma (JXG) manifesting with Langerhans cell histiocytosis (LCH)-associated neurodegenerative disease (ND)-like radiological findings. One patient showed typical radiological abnormalities at onset, which worsened with progressing central nervous system symptoms 7 years after LCH-oriented chemotherapy. Another showed spontaneous regression of clinical symptoms, with a transient radiological change 1 year after salvage chemotherapy for recurrence of JXG. These data regarding JXG-associated ND will facilitate future investigation of the disease, as well as development of therapeutic interventions.
Topics: Humans; Xanthogranuloma, Juvenile; Neurodegenerative Diseases; Histiocytosis, Langerhans-Cell; Male; Female; Infant; Child, Preschool; Child; Magnetic Resonance Imaging
PubMed: 38679849
DOI: 10.1002/pbc.31043 -
Pediatric Blood & Cancer Jul 2024
Topics: Humans; Xanthogranuloma, Juvenile; Brain Neoplasms; Infant, Newborn; Infant, Premature; Male; Female
PubMed: 38605542
DOI: 10.1002/pbc.31003