-
BMC Pediatrics Mar 2023Subepidermal calcified nodule (SCN) is a type of calcinosis cutis that usually occurs in children. The lesions in the SCN resemble those of other skin diseases, such as...
BACKGROUND
Subepidermal calcified nodule (SCN) is a type of calcinosis cutis that usually occurs in children. The lesions in the SCN resemble those of other skin diseases, such as pilomatrixoma, molluscum contagiosum, and juvenile xanthogranuloma, leading to a high rate of misdiagnoses. Noninvasive in vivo imaging techniques, represented by dermoscopy and reflectance confocal microscopy (RCM), have dramatically accelerated skin cancer research over the past decade, and their applications have greatly expanded into other skin disorders. However, the features of an SCN in dermoscopy and RCM have yet to be reported previously. Combining these novel approaches with conventional histopathological examinations is a promising method for increasing diagnostic accuracy.
CASE PRESENTATION
We report on a case of SCN of the eyelid diagnosed with the aid of dermoscopy and RCM. A 14-year-old male patient who presented with a painless yellowish-white papule on his left upper eyelid was previously diagnosed with a common wart. Unfortunately, treatment with recombinant human interferon gel was not effective. To achieve a correct diagnosis, dermoscopy and RCM were performed. The former showed closely grouped multiple yellowish-white clods surrounded by linear vessels, and the latter exhibited hyperrefractile material nests at the dermal-epidermal junction level. The alternative diagnoses were, therefore, excluded because of in vivo characterizations. Subsequent surgical excision, histological examination, and von Kossa staining were performed. Pathology showed hyperkeratosis of the epidermis, a downward-directed basal-layer expansion, and small amorphous basophilic deposits scattered throughout the papillary dermis. The von Kossa staining confirmed calcium deposits in the lesion. An SCN was then diagnosed. During the 6-month follow-up, no relapse was observed.
CONCLUSIONS
Patients with SCN could benefit from dermoscopy and RCM, which help achieve an accurate diagnosis. Clinicians should consider the possibility of an SCN for an adolescent patient with painless yellowish-white papules.
Topics: Adolescent; Child; Male; Humans; Dermoscopy; Skin; Calcinosis Cutis; Calcium; Microscopy, Confocal
PubMed: 36869283
DOI: 10.1186/s12887-023-03913-6 -
Neurology India 2023
Topics: Humans; Xanthogranuloma, Juvenile; Cognitive Dysfunction
PubMed: 36861607
DOI: 10.4103/0028-3886.370469 -
Archivos Argentinos de Pediatria Oct 2023The infiltration of leukemia cells into the skin, known as leukemia cutis, is a rare presentation of this disease and accounts for a diagnostic challenge. The main...
The infiltration of leukemia cells into the skin, known as leukemia cutis, is a rare presentation of this disease and accounts for a diagnostic challenge. The main differential diagnoses include infections, other neoplastic diseases with skin involvement and histiocytic disorders, among others, as they entail different prognostic and therapeutic approaches. Here we describe two patients who were initially diagnosed with leukemia cutis, whose final diagnosis was of non-malignant diseases.
Topics: Humans; Leukemia; Skin Neoplasms; Skin; Diagnosis, Differential
PubMed: 36857109
DOI: 10.5546/aap.2022-02796.eng -
AJP Reports Jan 2023Juvenile xanthogranuloma (JXG) is a benign proliferative histiocytic disorder of the dendritic cell phenotype. It mostly presents in the pediatric age group as a...
Juvenile xanthogranuloma (JXG) is a benign proliferative histiocytic disorder of the dendritic cell phenotype. It mostly presents in the pediatric age group as a solitary skin lesion. We describe a rare case of an infant born with disseminated JXG who presented with a blueberry muffin rash at birth. A term infant was noted to have multiple petechiae, purple nodules, and macules (1 mm-2 cm in diameter) and hepatosplenomegaly, at the time of birth. Further investigations revealed thrombocytopenia and direct hyperbilirubinemia and a magnetic resonance imaging showed scattered tiny foci of restricted diffusion in multiple areas of the brain. Patient received multiple platelet transfusions in the first few weeks with gradual improvement in thrombocytopenia. Ultimately, a biopsy of one of the lesions revealed the diagnosis of disseminated JXG with notable atypical features. Somatic mutation analysis showed a novel MYH9-FLT3 fusion, but a bone marrow biopsy was negative. The lesions faded over time, relative to patient's growth and normal neurodevelopment was noted at 18 months of age. JXG should be considered in the differentials of blueberry muffin rash in an infant. Although, JXG is mostly a self-limited condition, congenital disseminated JXG may be associated with significant morbidity and mortality.
PubMed: 36816441
DOI: 10.1055/a-2015-1080 -
Surgical Neurology International 2023Juvenile xanthogranuloma (JXG) is a proliferative disorder of non-Langerhans histiocytes. The lesions typically occur in children as solitary cutaneous lesions, but are...
BACKGROUND
Juvenile xanthogranuloma (JXG) is a proliferative disorder of non-Langerhans histiocytes. The lesions typically occur in children as solitary cutaneous lesions, but are only rarely found in adults in their late twenties to thirties. Approximately 5-10% of JXG are extracutaneous in location, with spinal JXG being only rarely encountered. Here, we described a 28-year-old male with an extradural spinal JXG resulting in severe C6- T1 spinal cord compression and a progressive quadriparesis that warranted a decompressive laminectomy/C6-T2 fusion.
CASE DESCRIPTION
A 28-year-old male presented with a progressive quadriparesis of 12 months' duration that rapidly worsened over the last 3 months. When the MRI revealed severe cord epidural C6-T1 cord compression, the patient successfully underwent a C6-T1 laminectomy for gross total tumor excision followed by a C6-T2 instrumented fusion. The histopathology confirmed the diagnosis of a spinal JXG.
CONCLUSION
Spinal JXGs in adults are only rarely encountered and should be treated with gross total tumor excision with/without fusion to achieve the best long-term outcomes.
PubMed: 36751446
DOI: 10.25259/SNI_1129_2022 -
Archive of Clinical Cases 2022Juvenile Xanthogranuloma (XG) is a rare disorder that belongs to the heterogeneous group of histiocytic neoplasms, characterized by a clonal expansion of non-Langerhans...
Juvenile Xanthogranuloma (XG) is a rare disorder that belongs to the heterogeneous group of histiocytic neoplasms, characterized by a clonal expansion of non-Langerhans cell histiocytes that share a dermal macrophage phenotype. Although the head and neck region is the most common reported site of involvement by the Juvenile Xanthogranuloma family, laryngeal localization is extremely rare. We report a unique case of Adult Onset Xanthogranuloma with subglottic localization, presenting as a solitary laryngeal mass without other systemic or cutaneous lesions. A review of the previously described cases of laryngeal Xanthogranuloma has been performed, highlighting 7 cases of Juvenile Xanthogranuloma and only 3 cases of Adult Onset Xanthogranuloma. Despite the extreme rarity of laryngeal localization of XG, this histiocytic neoplasm should be considered as a differential diagnosis for laryngeal masses causing airway obstruction, even in the absence of other concomitant manifestations.
PubMed: 36628161
DOI: 10.22551/2022.37.0904.10221 -
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 -
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 -
Asian Journal of Surgery Jun 2023
Topics: Humans; Xanthogranuloma, Juvenile; Magnetic Resonance Imaging
PubMed: 36473813
DOI: 10.1016/j.asjsur.2022.11.121 -
Case Reports in Ophthalmology 2022Xanthogranuloma is a benign histiocytic disorder that generally appears in infants and children and often called juvenile xanthogranuloma (JXG). Typical reddish-yellow...
Xanthogranuloma is a benign histiocytic disorder that generally appears in infants and children and often called juvenile xanthogranuloma (JXG). Typical reddish-yellow cutaneous papules or nodules are the most common presentation of JXG. Extracutaneous JXG affects eyes, brain, lungs, liver, spleen, and other sites. Isolated ocular manifestation without skin lesion is rare, especially in adult patients. Here, we report a case of a 27-year-old man who presented with gradually growing yellowish mass at the corneoscleral area of the left eye for 5 months. The patient had worn soft contact lenses for more than 10 years. With atypical age of onset and the absence of skin lesion, total mass excision with lamellar corneoscleral graft and amniotic membrane transplantation was done, and the diagnosis of adult-onset limbal xanthogranuloma was made by histopathological and immunohistochemical examinations. Postoperatively, the patient had good vision with corrected distant visual acuity of 20/30, and the graft was clear. There was no evidence of recurrence at 4-year follow-up. We found that excision with lamellar corneoscleral graft in limbal xanthogranuloma shows good result with no recurrence. The same result occurred to other previous cases reported, so complete excision with graft could be an effective treatment of choice in patient with limbal xanthogranuloma.
PubMed: 36466058
DOI: 10.1159/000526711