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La Clinica Terapeutica 2022Neurofibromatosis type 1 (NF1), is a rare genetic disorder that may involve almost every organ system in the body such as cutaneous, ophthalmologic and central and... (Review)
Review
Juvenile xanthogranuloma in neurofibromatosis type 1. Prevalence and possible correlation with lymphoproliferative diseases: experience of a single center and review of the literature.
Neurofibromatosis type 1 (NF1), is a rare genetic disorder that may involve almost every organ system in the body such as cutaneous, ophthalmologic and central and peripheral nervous system. Cutaneous findings are usually the first sign of the disease. In this study, we investigate the real prevalence of xanthogranulomas juvenile (JXG) and possible correlation with lymphoproliferative diseases. This is a retrospective study conducted on a population with NF1 followed by February 1983 to February 2022 at the "Sapienza" University of Rome, Italy. We investigate the real prevalence of juvenile xanthogranuloma in NF1 and possible correlation with lymphoproliferative diseases. JXG was present in 39 cases (3.1%). JXG is more frequent in NF1 than in the general population while the possible association with lymphoproliferative diseases in NF1 remains controversial.
Topics: Humans; Neurofibromatosis 1; Prevalence; Retrospective Studies; Skin; Xanthogranuloma, Juvenile
PubMed: 35857053
DOI: 10.7417/CT.2022.2445 -
Ear, Nose, & Throat Journal Jul 2022
PubMed: 35791499
DOI: 10.1177/01455613221113795 -
Skin Research and Technology : Official... Sep 2022Molluscum contagiosum (MC), milia, keratosis pilaris (KP), verruca plana (VP), seborrheic keratosis (SK), and juvenile xanthogranuloma (JXG) are common papule dermatoses...
BACKGROUND
Molluscum contagiosum (MC), milia, keratosis pilaris (KP), verruca plana (VP), seborrheic keratosis (SK), and juvenile xanthogranuloma (JXG) are common papule dermatoses on the face of children that have a similar appearance. In vivo evaluation of facial papule dermatoses with reflectance confocal microscopy (RCM) is helpful in the diagnosis of these ambiguous lesions in children. The purpose of this study was to clarify the RCM characteristics of MC, milia, KP, VP, SK, and JXG and explore the clinical application value of RCM for these common facial papule dermatoses.
METHODS
We recruited 113 patients referred for unequivocal facial papule dermatosis, including 21 patients with MC, 17 patients with milia, 19 patients with KP, 36 patients with VP, 8 patients with SK, and 12 patients with JXG. We evaluated the characteristics and distinguishing features of the six kinds of facial papule dermatoses using RCM.
RESULTS
The main RCM features of the six dermatoses included a well-demarcated border of the lesion area. MC, milia and KP all manifested cyst-like structures, and their distinguishing features were the location of the cystic structures and the refractive index of the contents. Although VP, SK, and JXG did not have obvious cystoid structures, VP was typically characterized by uniformly distributed petal-like structures with a medium-to-high refractive index in the epidermis. With regard to SK, the characteristic features were an obviously thickened epidermis and cobblestone-like structures. JXG was mainly characterized by multiple large round and ovoid cells with a foamy cytoplasm, and discoid-shaped multinucleated large cells were diffusely distributed in the dermis.
CONCLUSION
RCM allows the real-time visualization of major key diagnostic and distinguishing features of common facial papule dermatoses in children, including MC, milia, KP, VP, SK, and JXG.
Topics: Child; Dermoscopy; Diagnosis, Differential; Facial Dermatoses; Humans; Keratosis, Seborrheic; Microscopy, Confocal; Skin Neoplasms; Warts
PubMed: 35726961
DOI: 10.1111/srt.13170 -
Indian Pediatrics Jun 2022
Topics: Glottis; Humans; Xanthogranuloma, Juvenile
PubMed: 35695144
DOI: No ID Found -
Actas Dermo-sifiliograficas 2022The diagnosis of Neurofibromatosis type 1 (NF1) is usually delayed in children without a family history. We aimed to define the prevalence and characteristics of...
BACKGROUND
The diagnosis of Neurofibromatosis type 1 (NF1) is usually delayed in children without a family history. We aimed to define the prevalence and characteristics of prevalent skin manifestations in NF1 compared to the general population, which continue to be excluded from the diagnostic criteria for NF1.
PATIENTS AND METHODS
Case-control study, matched by age groups, in which 108 patients with a diagnosis of NF1 and 137 healthy controls were included.
RESULTS
The prevalence of nevus anemicus (NA) (p<0.001) and juvenile xanthogranulomas (JXG) (p<0.001) was significantly higher in the population affected by NF1 than in the control population. A specificity of 99.27% [confidence interval (CI): 95.4-99.96%] and a positive predictive value (PPV) of 98.80% [92.54-99.94%] were estimated for NA and a specificity of 99.27% [95.4-99.96%] and a PPV of 92.86% [64.17-99.63%] for JXG in the diagnosis of NF1 in children who present 6 or more Café-au-lait macules. Statistically significant differences were also evidenced in the distribution by phototypes (p 0.025) and in relation to generalized itching with no other cause (p<0.001).
CONCLUSIONS
NA and JXG are relevant clinical findings for the diagnosis of NF1, especially during the first years of life. We consider that its inclusion among the diagnostic criteria of the disease should be evaluated.
Topics: Child; Humans; Neurofibromatosis 1; Case-Control Studies; Cafe-au-Lait Spots; Pigmentation Disorders; Xanthogranuloma, Juvenile; Prevalence; Inflammation
PubMed: 35636506
DOI: 10.1016/j.ad.2022.05.014 -
European Journal of Pediatric Surgery... Jan 2022Vulvar masses in children are an unusual finding but their differential diagnosis is extensive. In case of solid masses, rhabdomyosarcoma (RMS) must always be considered...
Vulvar masses in children are an unusual finding but their differential diagnosis is extensive. In case of solid masses, rhabdomyosarcoma (RMS) must always be considered due to the fact that it is the most common tumor in external genitals during childhood. However, RMS has a radiological appearance very similar to juvenile xanthogranuloma (JXG). We present a 16-month-old girl with a 2 cm solid mass on her left labia majora, with four overlying cutaneous papules. After imaging tests, an excisional biopsy was programmed due to high malignancy suspicion. Histopathology of the mass and one of the papules was diagnostic for JXG. After a 12-month follow-up, the patient shows no signs of relapse or complication. Deep JXG is an uncommon entity in childhood and exceptional in the genital area. Therefore, it must be included in the differential diagnosis of a solid vulvar mass, especially if accompanying yellowish xanthomatous cutaneous lesions are present.
PubMed: 35450098
DOI: 10.1055/s-0042-1743159 -
BMC Pediatrics Feb 2022Juvenile xanthogranuloma (JXG) is a kind of non-Langerhans cell histiocytosis, usually with skin lesions as the main manifestation. It rarely occurs in other tissues or...
BACKGROUND
Juvenile xanthogranuloma (JXG) is a kind of non-Langerhans cell histiocytosis, usually with skin lesions as the main manifestation. It rarely occurs in other tissues or organs and even more rarely is it found in the skull. Here, we report a case of xanthogranuloma derived from the temporal bone that was not present in any other parts of the body.
CASE PRESENTATION
A 15-year-old boy had an unaccountable right migraine for 7 months. A mass with tenderness was located behind his right ear. The mass gradually increased in size, and his headache continued. Eventually, he came to our hospital for treatment. A computed tomography (CT) scan and magnetic resonance imaging (MRI) revealed a cystic solid mass in the right temporo-occipital region with skull destruction. The clinical diagnosis was haemangiopericytoma and skull-derived tumour. Haematological and biochemical results were as follows: alanine aminotransferase (ALT) 7 U/L; aspartate aminotransferase (AST) 12 U/L; basophil percentage (BASO%) 1.2%; normal coagulation. The patient was successfully treated with total surgical resection of the tumour. Postoperative histopathology examination showed xanthogranuloma, and his prognosis after surgery was good.
CONCLUSIONS
Because JXG rarely occurs in the skull and lacks typical imaging findings, an accurate diagnosis is difficult. The diagnosis of this disease mainly depends on pathological examination and immunohistochemistry. If feasible, many intracranial lesions can be cured through complete resection.
Topics: Adolescent; Head; Humans; Magnetic Resonance Imaging; Male; Temporal Bone; Tomography, X-Ray Computed; Xanthogranuloma, Juvenile
PubMed: 35151291
DOI: 10.1186/s12887-022-03150-3 -
Graefe's Archive For Clinical and... Jul 2022Solitary eyelid juvenile xanthogranuloma (JXG) is extremely rare, and there is limited literature on its clinical features and treatment outcomes. Here, we present a... (Review)
Review
PURPOSE
Solitary eyelid juvenile xanthogranuloma (JXG) is extremely rare, and there is limited literature on its clinical features and treatment outcomes. Here, we present a case series and comprehensive review of the literature on patients with isolated eyelid JXG.
METHODS
We systematically extracted data from our institution's records of isolated eyelid JXG cases and conducted a search for additional cases from the literature utilising the PubMed, Wanfang, and Chinese National Knowledge Infrastructure (CNKI) databases. Patients with JXG were analysed with respect to age, sex, clinical presentation, therapy, and outcome. Group comparisons were performed.
RESULTS
Thirty-two patients (including 13 at our institution and 19 from prior publications) were identified. The median age at first presentation was higher in current patients than in the patients from the published cases (median 9 years, range 1.2 to 47.0 years; median 2 years, range 0.5 months to 46.0 years, respectively, P = 0.014). Of the patients who had known characteristics, no significant differences were observed between the two groups in terms of sex, affected eye, eyelid site, type of cutaneous involvement, or duration of symptoms (each P > 0.05). Seventeen (54.8%) patients were male. The most common lesion location was the upper eyelid (n = 10, 62.5%). Twenty-four (75.0%) cutaneous lesions had full-thickness skin involvement; 8 (25.0%) subcutaneous masses had a chalazion-like appearance. Histologically, the JXG masses were characterised by Touton giant cells with inflammatory cells. Additionally, there was no significant difference in treatment modalities between the two groups (P = 0.072), and 24 (75.0%) patients underwent surgical excision. The overall recurrence-free survival was 3.6 to 52.8 (median 27.0) months in the current patients. For published cases with available follow-up information, there was no recurrence in 10 cases and improvement in 1 case, with a median follow-up of 9.5 months.
CONCLUSION
Solitary eyelid JXG is a rare clinical entity and should be included in the differential diagnosis of eyelid mass lesions in patients of all age groups. Surgical excision is often selected for efficient treatment and to obtain an excisional biopsy.
Topics: Biopsy; Child, Preschool; Diagnosis, Differential; Eyelids; Female; Humans; Infant; Male; Treatment Outcome; Xanthogranuloma, Juvenile
PubMed: 35084531
DOI: 10.1007/s00417-022-05560-6 -
JAAD Case Reports Jan 2022
PubMed: 34977310
DOI: 10.1016/j.jdcr.2021.08.038 -
Acta Medica Academica Aug 2021
Topics: Female; Humans; Infant; Xanthogranuloma, Juvenile
PubMed: 34847683
DOI: 10.5644/ama2006-124.346