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Plastic and Reconstructive Surgery.... Jul 2021We treated a patient with juvenile xanthogranuloma on the upper lip. A yellow, elastic, hard tumor on the upper lip was evident from birth, which gradually increased in...
We treated a patient with juvenile xanthogranuloma on the upper lip. A yellow, elastic, hard tumor on the upper lip was evident from birth, which gradually increased in size. The patient was examined at our department at the age of 7 months, at which time the mass extended from the upper lip to the nasal cavity and measured approximately 1 cm. There was a risk that the mass might obstruct the nasal cavity, and an incisional biopsy was conducted to obtain a definitive diagnosis. In histopathological testing, the patient was diagnosed with a juvenile xanthogranuloma. Part of the mass still remains on the upper lip, but has not increased in size during postoperative monitoring. Juvenile xanthogranuloma on the upper lip is extremely rare, and to the best of our knowledge, this is only the fourth case to be reported in the plastic surgery literature in English. In most cases, juvenile xanthogranuloma regresses spontaneously, and unnecessary surgery is to be avoided. The possibility of juvenile xanthogranuloma should always be considered for masses that increase in size in infants and young children, and it is important to reach a definitive diagnosis by skin biopsy.
PubMed: 34290944
DOI: 10.1097/GOX.0000000000003712 -
Postepy Dermatologii I Alergologii Jun 2019
PubMed: 31333355
DOI: 10.5114/ada.2019.85643 -
Acta Medica Portuguesa 2010Tumors affecting the fetus and newborn differ from those found in older children and adults, leading to new diagnostic and therapeutic challenges.
INTRODUCTION
Tumors affecting the fetus and newborn differ from those found in older children and adults, leading to new diagnostic and therapeutic challenges.
AIM
To evaluate the main clinical aspects related to neonatal tumors.
MATERIAL AND METHODS
Retrospective analysis of clinical data from newborn patients admitted to the Service of Neonatology of São João Hospital between 1996 and 2006, with the diagnosis of tumor or neoplasia.
RESULTS
Total = 32 cases, 16M/16F, birth weight: 3146 g (965-4590), gestational age 38 weeks (28-41), seven (22%) preterm, C-section rate 75% (n = 24), two with EXIT procedure.
DIAGNOSIS
Teratoma (n = 8); lymphangioma (n = 7), neuroblastoma (n = 6), haemangioma (n = 5), other solid tumors (n = 6); acute lymphoblastic leukemia (n = 1). Prenatal diagnosis 50% (n = 16). Teratoma: immature (n = 3); mature (n = 5), sacrococcygeal location (n = 5); cervical (n = 3); total macroscopic resection (n = 8). Cystic lymphangioma: cervical location (n = 5); cervicothoracic location (n = 1); thoracoabdominal location (n = 1); total macroscopic resection (n = 7). NEUROBLASTOMA: abdominal location (n = 5); cervical location (n = 1); deletion 1p (n = 0); oncogene n-myc amplification (n = 0); stage I (n = 1); IIB (n = 1); III (n = 3); IV (n = 1). Chemotherapy (n = 5), according to the <
> (n = 2), surgical resection (n = 4). Four patients remain without disease and two present with residual disease. OTHER SOLID TUMORS: Large haemangiomas (n = 5); scaly papiloma (n = 1); juvenile xanthogranuloma (n = 1); lipoblastoma (n = 1); nephroma (n = 1); nonclassified neoplasm, possible nervous sheath sarcoma (n = 1). All patients showed a good clinical evolution. Acute lymphoblast leukemia (n = 1), deceased. COMMENT
Pre-natal diagnosis allows the planning of a careful multidisciplinary approach. In these rare entities it is crucial to pursue international collaboration, ideally workgroup committees, aiming for better clinical knowledge and an improved prognosis.
Topics: Female; Humans; Infant, Newborn; Male; Neoplasms; Retrospective Studies
PubMed: 20654259
DOI: No ID Found -
BMC Oral Health Dec 2022Juvenile Xanthogranuloma (JXG) is a non-hereditary, self-limiting disease which is usually presented in infancy or early childhood and in males over females.
BACKGROUND
Juvenile Xanthogranuloma (JXG) is a non-hereditary, self-limiting disease which is usually presented in infancy or early childhood and in males over females.
CASE PRESENTATION
We report a rare case of oral Juvenile Xanthogranuloma with recurrent progressive gingival hyperplasia and concomitant presentation of osteolysis in a 21-year-old adult male with no significant medical history. Patient presented with generalized gingival hyperplasia, osteolysis of the maxilla and mandible, and a round, firm, nodular mass with clear circumference on the left shoulder. Results of gingival tissue biopsy, karyotype, bone marrow biopsy and immunohistochemistry were suggestive of a diagnosis of Juvenile Xanthogranuloma with no association to hematologic malignancy. Unfortunately, patient declined treatment and elected to be transferred back to local hospital for future evaluation.
CONCLUSIONS
Juvenile Xanthogranuloma in adults can have atypical manifestations including generalized gingival hyperplasia and osteolysis of the maxilla and mandible. It should be differentiated between Langerhans cell histiocytosis, Papillon-Lefevre Syndrome, and Pyogenic Granulomas. Despite uncommon incidence, it should be included in differential diagnoses in cases of similar clinical presentations.
Topics: Female; Humans; Adult; Male; Child, Preschool; Young Adult; Xanthogranuloma, Juvenile; Osteolysis; Gingival Hyperplasia; Histiocytosis, Langerhans-Cell; Immunohistochemistry
PubMed: 36529720
DOI: 10.1186/s12903-022-02643-y -
Neurology India 2023
Topics: Humans; Xanthogranuloma, Juvenile; Cognitive Dysfunction
PubMed: 36861607
DOI: 10.4103/0028-3886.370469 -
American Journal of Ophthalmology Case... Mar 2018To report a case of juvenile xanthogranuloma involving the iris and skin that clincally was diagnosed with an obvious cutaneous lesion.
PURPOSE
To report a case of juvenile xanthogranuloma involving the iris and skin that clincally was diagnosed with an obvious cutaneous lesion.
OBSERVATIONS
A four month-old girl with hyphema and increased intraocular pressure of the left eye persisting for 2 weeks. A suspicious yellow-brown mass with nodular surface and traversed by irregular vascularization was noted on the inferior iris surface. Ultrasound biomicroscopy (UBM; 35 MHz) of the mass revealed multiple nodular irregular hyperreflective lesions in the peripheral iris. Using a biopsy of an obvious cutaneous abdominal skin lesion a diagnosis was made based on histopathological analyses. The biopsy showed dense dermal infiltrate consisting of foamy histiocytes. Additional stains revealed CD68 positivity and CD1a and S100 negativity. This mass revealed histopathologic features identical to juvenile xanthogranuloma and was concurrent with the iris lesion. Next-generation sequencing using Ion AmpliSeqTM Cancer Hotspot Panel revealed a missense mutation of (p.F386L).
CONCLUSION AND IMPORTANCE
The diagnosis of a xanthogranuloma of the iris with hyphema can be made easier in patients with obvious cutaneous lesions as described in our case. The significance of mutation in association with JXG is unknown and should be further investigated.
PubMed: 29468209
DOI: 10.1016/j.ajoc.2017.09.004 -
BMC Pediatrics Apr 2021Systemic juvenile xanthogranuloma is a very rare disease typically presents as skin lesions with yellow papules or nodules and is sometimes fatal. We report a case of... (Review)
Review
BACKGROUND
Systemic juvenile xanthogranuloma is a very rare disease typically presents as skin lesions with yellow papules or nodules and is sometimes fatal. We report a case of congenital neonatal systemic juvenile xanthogranuloma with atypical skin appearance that made the diagnosis difficult.
CASE PRESENTATION
A preterm Japanese female neonate with prenatally diagnosed fetal hydrops in-utero was born with purpuric lesions involving the trunk and face. Since birth, she had hypoxemic respiratory failure, splenomegaly, anemia, thrombocytopenia, coagulopathy, and was transfusion dependent for red blood cells, fresh frozen plasma, and platelets. Multiple cystic lesions in her liver, part of them with vascular, were detected by ultrasound. A liver biopsy was inconclusive. A skin lesion on her face similar to purpura gradually changed to a firm and solid enlarged non-yellow nodule. Technically, the typical finding on skin biopsy would have been histiocytic infiltration (without Touton Giant cells) and immunohistochemistry results which then would be consistent with a diagnosis of systemic juvenile xanthogranuloma, and chemotherapy improved her general condition.
CONCLUSIONS
This case report shows that skin biopsies are necessary to detect neonatal systemic juvenile xanthogranuloma when there are organ symptoms and skin eruption, even if the skin lesion does not have a typical appearance of yellow papules or nodules.
Topics: Biopsy; Edema; Female; Humans; Infant, Newborn; Purpura; Skin; Xanthogranuloma, Juvenile
PubMed: 33823829
DOI: 10.1186/s12887-021-02632-0 -
Head and Neck Pathology Jun 2022Juvenile xanthogranuloma (JXG) is the most common form of non-Langerhans cell histiocytosis and oral mucosal involvement is exceedingly rare. Histiocytic disorders... (Review)
Review
Juvenile xanthogranuloma (JXG) is the most common form of non-Langerhans cell histiocytosis and oral mucosal involvement is exceedingly rare. Histiocytic disorders harbor activating mutations in MAPK pathway, including the report of BRAF V600E in JXG of extracutaneous site. However, no information is available for oral JXG. Herein, the clinicopathological and immunohistochemical features of five new oral JXG were evaluated in conjunction with literature review. Also, we assessed the BRAF V600E in oral samples. Five oral JXG were retrieved from pathology archives. Morphological and immunohistochemical analyses were performed. The BRAF V600E status was determined with TaqMan allele-specific qPCR. The series comprised of three female and two male patients, most of them adults, with a median age of 39 years (range 13-68 years). Clinically, the lesions appeared as asymptomatic solitary nodules, measuring until 2.5 cm, with more incident to the buccal mucosa. Morphologically, most of the cases presented classical histological features of JXG, with histiocytic cells consistent with the non-Langerhans cell immunophenotype. BRAF V600E was not detected in the cases tested. This is the first and largest published series of oral JXG affecting adults and a Brazilian population. The molecular pathogenesis of oral JXG remains unknown. Clinicians and pathologists must recognize JXG to avoid misdiagnoses with oral benign or malignant lesions.
Topics: Adolescent; Adult; Aged; Brazil; Female; Humans; Male; Middle Aged; Mutation; Proto-Oncogene Proteins B-raf; Xanthogranuloma, Juvenile; Young Adult
PubMed: 34414559
DOI: 10.1007/s12105-021-01373-x -
Indian Journal of Dermatology and... 1972
PubMed: 29144315
DOI: No ID Found -
American Journal of Ophthalmology Case... Mar 2023To report a rare case of an eyelid lesion in an adult, with histological features of juvenile xanthogranuloma (JXG).
PURPOSE
To report a rare case of an eyelid lesion in an adult, with histological features of juvenile xanthogranuloma (JXG).
OBSERVATIONS
Juvenile xanthogranuloma primarily affects the skin of infants and young children. It infrequently can involve the structures of the eye and orbit and rarely occurs in individuals beyond the second decade of life. We present a case of adult onset xanthogranuloma (AXG) involving the eyelid of a 29-year-old female. This lesion required management with multiple treatment modalities.
CONCLUSIONS
This is a rare example of an eyelid xanthogranuloma in an adult. As such, JXG-like lesions should be included as a differential diagnosis for lesions of the eye and orbit in adults. Surgical management may be required if there is no response to intralesional steroids.
PubMed: 36544751
DOI: 10.1016/j.ajoc.2022.101775