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HCA Healthcare Journal of Medicine 2022Description Juvenile xanthogranuloma (JXG) is a rare type of non-Langerhans cell histiocytosis. JXGs are benign and have a self-limiting course generally lasting 6...
Description Juvenile xanthogranuloma (JXG) is a rare type of non-Langerhans cell histiocytosis. JXGs are benign and have a self-limiting course generally lasting 6 months to 3 years, with some reported durations longer than 6 years. We present a rarer congenital giant variant, defined as lesions with a diameter larger than 2 cm. It is uncertain if the natural history of giant xanthogranulomas is similar to the usual JXG. We followed a 5-month-old patient with a 3.5 cm in diameter, histopathologically-confirmed, congenital, giant JXG located on the right side of her upper back. The patient was seen every 6 months for 2.5 years. At 1 year of age, the lesion had decreased in size, lightened in color, and was less firm. At 1.5 years old, the lesion had flattened. By 3 years old, the lesion had resolved but left a hyperpigmented patch with a scar at the punch biopsy site. Our case represents a congenital giant JXG that was biopsied to confirm the diagnosis and then monitored until resolution. This case supports the clinical course of giant JXG not being affected by the larger lesion size and that aggressive treatments or procedures are not warranted.
PubMed: 37427313
DOI: 10.36518/2689-0216.1333 -
American Journal of Ophthalmology Case... Sep 2023To report a case of diffuse xanthogranuloma presenting as bilateral anterior uveitis in a neonate.
PURPOSE
To report a case of diffuse xanthogranuloma presenting as bilateral anterior uveitis in a neonate.
OBSERVATIONS
A neonate was brought by the parents with complaints of redness, watering, and photophobia in both eyes for 10 days. Examination under anesthesia revealed the presence of bilateral hyphema, fibrinous membrane, corneal haze, and raised intraocular pressure (IOP). Ultrasound Biomicroscopy revealed diffuse bilateral iris thickening. The child was managed medically with topical glaucoma medications, topical steroids, and cycloplegics. The child responded well with the resolution of hyphema, anterior chamber inflammation, and reduction of IOP.
CONCLUSION AND IMPORTANCE
In neonates and infants presenting with bilateral uveitis, spontaneous hyphema, and secondary glaucoma, even in the absence of a well-defined iris lesion, diffuse juvenile xanthogranuloma should be considered as a differential diagnosis.
PubMed: 37323587
DOI: 10.1016/j.ajoc.2023.101867 -
Brain Pathology (Zurich, Switzerland) Nov 2023
Topics: Child, Preschool; Humans; Male; Spinal Cord Neoplasms
PubMed: 37285582
DOI: 10.1111/bpa.13174 -
Cureus Apr 2023Juvenile xanthogranuloma (JXG) is an uncommon benign skin disorder of infants and young children characterized by dermal proliferation and infiltration of dendrocytes....
Juvenile xanthogranuloma (JXG) is an uncommon benign skin disorder of infants and young children characterized by dermal proliferation and infiltration of dendrocytes. We present a unique case of giant congenital JXG with a mixed presentation of macules, papules, nodules, and ulcerations in a neonatal male who was observed until the age of 23 months, by which time all lesions had spontaneously self-involuted. Prior to complete resolution, some lesions took the form of pedunculated protrusions. To our knowledge, this is the first of this atypical case to be presented in the literature.
PubMed: 37200655
DOI: 10.7759/cureus.37644 -
Dermatology Practical & Conceptual Apr 2023
PubMed: 37196283
DOI: 10.5826/dpc.1302a137 -
American Journal of Hematology Jul 2023The spectrum of somatic mutations in pediatric histiocytoses and their clinical implications are not fully characterized, especially for non-Langerhans cell...
The spectrum of somatic mutations in pediatric histiocytoses and their clinical implications are not fully characterized, especially for non-Langerhans cell histiocytosis (-LCH) subtypes. A cohort of 415 children with histiocytosis from the French histiocytosis registry was reviewed and analyzed for BRAF . Most BRAF samples were analyzed by next-generation sequencing (NGS) with a custom panel of genes for histiocytosis and myeloid neoplasia. Of 415 case samples, there were 366 LCH, 1 Erdheim-Chester disease, 21 Rosai-Dorfman disease (RDD), 21 juvenile xanthogranuloma (JXG, mostly with severe presentation), and 6 malignant histiocytosis (MH). BRAF was the most common mutation found in LCH (50.3%, n = 184). Among 105 non-BRAF -mutated LCH case samples, NGS revealed mutations as follows: MAP2K1 (n = 44), BRAF exon 12 deletions (n = 26), and duplications (n = 8), other BRAF V600 codon mutation (n = 4), and non-MAP-kinase pathway genes (n = 5). Wild-type sequences were identified in 17.1% of samples. BRAF was the only variant significantly correlated with critical presentations: organ-risk involvement and neurodegeneration. MAP-kinase pathway mutations were identified in seven RDD (mostly MAP2K1) and three JXG samples, but most samples were wild-type on NGS. Finally, two MH samples had KRAS mutations, and one had a novel BRAF mutation. Rarely, we identified mutations unrelated to MAP-kinase pathway genes. In conclusion, we characterized the mutational spectrum of childhood LCH and clinical correlations of variants and subtypes. Variants responsible for JXG and RDD were not elucidated in more than half of the cases, calling for other sequencing approaches.
Topics: Humans; Child; Histiocytosis, Langerhans-Cell; Proto-Oncogene Proteins B-raf; Erdheim-Chester Disease; Mutation; Exons
PubMed: 37115038
DOI: 10.1002/ajh.26938 -
Preliminary evaluation of penile papule dermatoses with reflectance confocal microscopy in children.Skin Research and Technology : Official... Apr 2023Owing to their similar appearance, lichen striatus (LS), lichen nitidus (LN), juvenile xanthogranuloma (JXG), and molluscum contagiosum (MC) on the penis often lead to...
BACKGROUND
Owing to their similar appearance, lichen striatus (LS), lichen nitidus (LN), juvenile xanthogranuloma (JXG), and molluscum contagiosum (MC) on the penis often lead to misdiagnosis and missed diagnosis, especially in children. In vivo evaluation of penile dermatoses with reflectance confocal microscopy (RCM) is helpful in the diagnosis of these ambiguous lesions in children.
METHODS
We recruited 12 patients with LS, nine with LN, seven with JXG, and nine with MC and evaluated the characteristics and distinguishing features of the four kinds of papule dermatoses on the penis using RCM.
RESULTS
The four dermatoses all had unique RCM features. LS generally showed focally destroyed dermal papillary rings, with numerous mononuclear cell clusters aggregated inside the papillary rings, and highly refractive clumps were observed. For LN, the dermal papillary rings were completely destroyed and arranged in a solitary, enlarged, cavity-like structure, in which round cells, particulate matter structures, and plump cellular structures were aggregated; the adjacent skin was completely normal. In JXG, the dermal papillary rings were significantly dilated, and the superficial dermis was filled with different-sized large bright ring cells; smaller, refractive, roundish structures; and particulate matter. For MC, the normal structures completely disappeared; the lesions were arranged in a crater-shaped structure; and a mass-like substance formed by the aggregation of multiple, uniform, roundish structures was observed within the crater.
CONCLUSION
RCM allows for real-time visualization of major key diagnostic and distinguishing features of four papule dermatoses, LS, LN, JXG, and MC, on the penis in children.
Topics: Male; Humans; Child; Skin Neoplasms; Skin; Keratosis; Pruritus; Microscopy, Confocal
PubMed: 37113081
DOI: 10.1111/srt.13330 -
A Multifaceted Approach to Treatment of Recalcitrant Cutaneous Periorbital Juvenile Xanthogranuloma.Journal of Ophthalmic & Vision Research 2023To demonstrate novel treatments for patients with high juvenile xanthogranuloma (JXG) eyelid lesion burden.
PURPOSE
To demonstrate novel treatments for patients with high juvenile xanthogranuloma (JXG) eyelid lesion burden.
CASE REPORT
A 14-year-old girl was referred to the oculoplastic surgery service for management of worsening extensive bilateral eyelid and adnexal lesions in the setting of JXG. The patient underwent intra-lesional steroid injections, serial excisions, and reconstruction with skin grafts. She was subsequently treated with CO laser-assisted topical steroid application, which resulted in lesion regression.
CONCLUSION
A novel multimodal approach to treatment of severe periocular JXG, incorporating surgical debulking, skin autograft, CO2 laser, and intra-lesional steroids, can be effective for lesion control.
PubMed: 36937193
DOI: 10.18502/jovr.v18i1.12733 -
Radiology Case Reports May 2023Juvenile xanthogranuloma (JX) is a non-Langerhans cell histiocytosis. Although precipitating factors remain unclear, it has been described mainly in infancy and early...
Juvenile xanthogranuloma (JX) is a non-Langerhans cell histiocytosis. Although precipitating factors remain unclear, it has been described mainly in infancy and early childhood. The giant variant of JX is a rare form that presents in infancy, measures over 2 cm and tends to involute only partly. Herein, we report a very rare localization of a giant JX in the parotid gland, discovered at age 1 month in an infant of a twin pregnancy and studied with ultrasound and magnetic resonance imaging.
PubMed: 36923389
DOI: 10.1016/j.radcr.2023.01.103