Hydroa vacciniforme lymphoproliferative disorder: a retrospective study of 42 paediatric cases.

Hydroa vacciniforme lymphoproliferative disorder (HVLPD) is a rare disease related to Epstein-Barr virus (EBV), mainly in children, and is an EBV-associated cutaneous T and natural killer (NK) cell lymphoproliferative disorder. The disorder in some patients may progress to EBV-associated systemic T or NK-cell lymphoma. To summarize the characteristics of HVLPD in Chinese paediatric patients and to examine the risk factors indicating poor prognosis. We performed a retrospective analysis of patients with HVLPD from the Department of Dermatology, Beijing Children's Hospital. Based on diagnosis, medical history, examination results, and immunophenotype, we analysed HVLPD in 42 paediatric cases in order to examine the clinical features, prognoses, and risk factors. Forty-two paediatric patients were enrolled, with a median onset age of five years. All patients presented with papulovesicular lesions, and 32 systemic HVLPD (sHVLPD) patients had systemic symptoms, including fever, lymphadenopathy, hepatomegaly, splenomegaly, and liver dysfunction. Of the sHVLPD cases, 13 also had severe mosquito bite allergy (SMBA). Twenty-five cases were T-type, and nine were CD56+-dominant type. Follow-up data showed that 12 patients had complete remission, and three patients died. SMBA is a risk factor for disease progression in patients with HVLPD, and the pathological CD56+-dominant phenotype is associated with poor prognosis.

Newborn Girl Presenting With Erythema and Blisters.

A female child presents for 3-year follow-up with erythema, vesicles, and bullae present since birth and an increasing number of annular hyperkeratotic plaques and palmoplantar hyperkeratosis. What is your diagnosis?

Alectinib In the Treatment of Systemic Juvenile Xanthogranuloma of Infancy With ALK Translocation.

This observational case series examines the diagnosis and treatment of 2 patients with systemic juvenile xanthogranuloma treated with alectinib.

Rapid response with good toleration of sirolimus for life-threatening neonatal lymphatic malformations.

Introduction: Lymphatic malformations (LMs) are rare vascular anomalies predominantly affecting infants, which can be debilitating or life-threatening when complicated with intralesional bleeding or infection. Effective and safe management strategies are essential in such cases. Case presentation: We report a case series involving four Chinese neonates with life-threatening LMs, initially treated with oral sirolimus. All patients achieved rapid relief and sustained remission, using a lower sirolimus dosage than previously recommended. Furthermore, adverse events were rarely recorded during follow-up. Conclusion: Sirolimus can be considered a promising choice for neonates with intricate and life-threatening LMs. Initiation with a reduced sirolimus dose is advisable.

Expression of TFE3 in Cellular and Myxoid Type of Neurothekeoma: Four Cases in Young Children and Adolescents.

Introduction: Cellular neurothekeoma is a benign tumor that mainly occurs in young children and adolescents. The aberrant expression of transcription factor E3 (TFE3) has not been reported in cellular neurothekeoma previously. Case report: We report four cellular neurothekeoma with aberrant immunohistochemical expression of TFE3 protein. The fluorescence in situ hybridization (FISH) showed no TFE3 gene rearrangement or amplification. Discussion/Conclusion: TEF3 protein expression may not be related to TFE3 gene translocation in cellular neurothekeoma. TFE3 may be a potential pitfall in diagnosis, for several malignant tumors in children also express TFE3. The aberrant expression of TFE3 may offer insights into cellular neurothekeoma etiology, and associated molecular mechanisms.

Ultra-High-Frequency Ultrasound in the Evaluation of Paediatric Pilomatricoma Based on the Histopathologic Classification.

Background: Pilomatricoma (PM) is one of the most common benign tumours in children. However, the inaccuracy of preoperative diagnosis and evaluation is high. Non-invasive examinations, including dermoscopy and ultrasound are helpful for diagnosing and evaluating PM. To date, ultra-high-frequency ultrasonographic features of PM have been rarely studied. Objective: We aimed to investigate the ultra-high frequency ultrasonographic features of PM in a large paediatric cohort and to determine the associations of these features with the clinical features of different histological subtypes of PM. Methods: This was a retrospective study. Patients who had both preoperative ultra-high-frequency ultrasonographic evaluation and pathological diagnosis of PM were enrolled. A series of infantile haemangiomas and cutaneous cysts during the same period were included as controls. Histological findings, including the stage, calcifying type, and ultrasonographic features of each lesion, were described. Results: A total of 133 patients with PM were included, and 147 PM lesions were analysed. The male-to-female ratio was 1:1.58, and the median age of onset was 91 (range: 10-188) months. On ultra-high-frequency ultrasonography, PM presented as heterogeneous (144/147, 98.0%), well-demarcated (143/147, 97.3%), and hypoechoic (126/147, 85.7%) tumours located between the deep dermis and subcutaneous tissue (139/147, 94.6%). The most common features were internal echogenic foci (135/147, 91.8%), hypoechoic rim (133/147, 90.5%), and posterior acoustic shadowing (94/147, 63.9%). Fourteen (9.5%) lesions were histologically categorized in the early stage, 58 (39.5%) in the fully developed stage, 65 (44.2%) in the early regressive stage and 10 (6.8%) in the late regressive stage. Three calcifying types, including scattered dots, clumps and arcs, were observed on histologic examination, which corresponded well with grey-scale imaging on ultra-high-frequency ultrasonography. Each calcifying type was significantly different in various histological stages (P = 0.001), among which scattered dots were mainly present in the early and fully developed stage and arc-shaped calcifying were present in the regressive stages. Calcification was observed in skin cysts, while there was more frequent posterior enhancement, less frequent posterior shadowing, and hypoechoic rim than PM. Haemangioma also presented as a hypoechoic tumour on grey-scale imaging. However, haemangioma was homogeneous and rarely calcifying. Conclusions: PM is a heterogeneous, well-demarcated, hypoechoic tumour located between the deep dermis and the subcutis on ultra-high-frequency ultrasonography. The most common features are internal echogenic foci (calcifying) and hypoechoic rim. Calcifying types can help in the staging of PM. Ultra-high-frequency ultrasound is a useful tool for the diagnosis and evaluation of PM.

Hypopigmented Mycosis Fungoides: A Clinical and Histopathology Analysis in 9 Children.

BACKGROUND: Hypopigmented mycosis fungoides (HMF) is an uncommon variant of mycosis fungoides. AIMS: To study the clinical and histopathology presentation in children with HMF. METHOD: We reviewed 9 children diagnosed with HMF. The clinical data were collected and analyzed. RESULT: Eight boys and 1 girl were included, with a median onset age of 7.4 year old and median age of diagnosis of 10.5 year old. Multiple hypopigmented patches were observed in all patients, and 5 patients exhibited multiple scaly erythema at the center of hypopigmented patches. Histopathology showed atypical lymphocytes with hyperchromatic, irregular, and cerebriform nuclei, infiltrated in the epidermis and dermis. Pautrier's microabscesses was noted in 6 of 9 patients, and papillary dermal fibroplasia was noted in 6 of 9 patients. CD8 predominance was detected in 4 of 6 patients. Four patients were simultaneously subjected to skin biopsy on hypopigmented patches and scaly erythema simultaneously. Compared with hypopigmented specimens, erythema biopsy detected deeper and denser infiltration of atypical lymphoid cells in 3 of 4 patients, higher CD4+/CD8+ ratio in 4 of 4 patients, more CD5 loss in 2 of 4 patients, and more CD7 loss in 2 of 4 patients. TCR gene monoclonal rearrangement was detected in 2 of 5 patients. Narrowband ultraviolet B phototherapy was applied in 7 patients. One of 7 patients achieved complete response, and 6 of 7 patients achieved partial response. No recurrence was noted with the median follow-up period of 6 months. CONCLUSION: HMF could occur in young patients, with indolent and benign course. HMF could gradually seem as scaly erythema based on hypopigmented patches. The histopathology indicated a more advanced stage of the scaly erythema lesions than hypopigmented patches.

Four pediatric cases of secondary neoplasms arising in nevus sebaceous.

Secondary neoplasms of epidermal adnexal origin have been reported to develop into nevus sebaceous (NS), mainly in adulthood but rarely in children. Four cases of secondary neoplasms were identified in 413 children of nevus sebaceous from 2015 to 2019 by our department, accounting for 1% of all cases. We here report the clinical, dermoscopical, and histopathological features of these tumors, including syringocystadenoma papilliferum (SCAP), pilomatricoma, trichilemmoma, and basal cell carcinoma (BCC). We recommend prophylactic excision of nevus sebaceous before puberty, not only because of the cosmetical disfigurement but also due to the risk of malignant transformation.

Dermoscopic Patterns in Juvenile Xanthogranuloma Based on the Histological Classification.

Background: Several dermoscopic features of juvenile xanthogranuloma (JXG) have been previously described in single cases or small case series and need to be further verified in a large sample. Objective: We aimed to investigate the dermoscopic patterns of JXG in a large case series and the correlations of these with clinical features of different histopathological subtypes of JXG. Methods: Patients who underwent dermoscopic evaluation and had a histopathological diagnosis of JXG were recruited. Histological findings, including stage and Ki67 proliferative index and the dermoscopic features of each lesion were recorded. Results: Forty-one patients with JXG were included. The male to female ratio was 1.28: 1 and the median age of onset was 11 months (range: 0-95 months). Fourteen lesions were histologically categorized in the early stage, 17 in the developed stage, and 10 in the late stage. The "setting sun" pattern was observed in 35 lesions (85.4%) and "clouds" of paler yellow areas in 26 lesions (63.4%). The frequency of the "setting sun" pattern was higher in the early and developed stages (30/31) than in the late stage (5/10) (P = 0.002), while that of "clouds" of paler yellow areas was not significantly different between each stage. Branched linear vessels were detected in the early (11/14) and developed stage (6/17), but not in the late stage. The mean Ki67 index of the lesions with linear vessels was 11.8% (range: 2-40%), which was higher than that of lesions without linear vessels (mean index: 5%, range: 1-30%) (P = 0.005). The pigment network and whitish areas were only detected in 6 and 5 lesions in the late stage, respectively. The whitish areas presented either as streak or stellate shape. The pigment network exhibited either in a centric or a peripheral pattern. Conclusions: The "setting sun" pattern is the characteristic dermoscopic features of JXG in the early and developed stages, while whitish areas and pigment network are the characteristic patterns in the late stage. Linear vessels present as branched patterns and mostly occur in the early stage with a high proliferative index, indicating rapid growth. The whitish areas and pigment network may present in various patterns. Dermoscopy is a useful adjunctive tool in the diagnosis and staging of JXG.

A case of pityriasis lichenoides et varioliformis acuta pemphigoides successfully treated with methotrexate and corticosteroids.

Pityriasis lichenoides et varioliformis acuta (PLEVA) pemphigoides is an uncommon skin disease, which is characterized by the appearance of blistering skin lesions in patients with PLEVA. We present a 3-year-old boy, who was diagnosed with PLEVA pemphigoides. Combined treatment of oral methotrexate and corticosteroids was more effective than corticosteroids alone on this patient.

High-resolution genome-wide analysis identified recurrent genetic alterations in NK/T-cell lymphoma, nasal type, which are associated with disease progression.

Extranodal NK/T-cell lymphoma, nasal type, is an aggressive mature NK-cell/T-cell lymphoma. Using array-based comparative genomic hybridization (array CGH) assays, we screened genomic alterations and potential candidate genes implicated in pathogenesis, progression, and prognosis. Our array CGH analysis detected an average of 83 chromosomal aberrations in 13 cases, ranging from 0 to 387. There were 177 recurrent chromosomal gains and 35 recurrent losses. Eleven gains and 14 losses were detected in more than 30 % of the cases, including gains of 3q26.1, 7q34, and 8q24.3 and losses of 15q24.2, 19q13.32, 5p13.2, and 14q21.1. The most common losses were observed in the 15q24.2 and 19q13.32 regions (9 cases, 69.2 %, respectively). Loss of 8p11.23 was associated with significant poor survival (P = 0.024). Five out of six patients with the loss of 8p11.23 died within 8 months after initial diagnosis with a median survival of 6 months. Several candidate genes were identified in the regions with frequent chromosomal aberrations, including ADAM3A (8p11.23) and GSTT1 (22q11.23). In summary, our studies detected recurrent genetic alterations in NK/T-cell lymphoma, some of which are associated with adverse prognosis. Some candidate genes in these regions may be involved in the pathogenesis and disease progression.

[Misdiagnosis of 3 cases lymphoma due to misjudgement of immunohistochemistry].

OBJECTIVE: To recognize the importance of analyzing the result of immunohistochemical staining correctly. METHOD: Review of the three misdiagnosed cases lymphoma and exploring the causes of misdiagnosis through reviewing their clinics, histopathology and immunohistochemistry. RESULTS: Case 1 of lymphocyte rich classical Hodgkin's lymphoma (LRCHL) was misdiagnosed as follicular lymphoma (FL) initially, the RS cells were overlooked morphologically and wrongly determined BCL-2 and CD20-positive cells as tumor cells immunohistochemically; also once misdiagnosed as nodular lymphocyte predominant Hodgkin's lymphoma (NLPHL) because the CD20-negative RS misjudged cells as the positives. Case 2 of AML tumor cells expressed TdT, CD7 and CD43 unspecifically, which misdiagnosed as T-cell lymphoblastic lymphoma (T-LBL). Case 3 of type B1 thymoma was misdiagnosed as T-LBL, because CK wasn't expressed satisfactorily resulting in neglecting neoplastic epithelial cells, and lymphocytes in the background were TdT and CD99-positive. CONCLUSION: The diagnosis of lymphoma should be based on morphology, immunohistochemistry, clinics, and genetics. Moreover, the correct judgment of immunohistochemical staining is essential to make right diagnosis.

[Clinical features of 16 cases of lymphoplasmacytic lymphoma/Waldenström macroglobulinemia].

In order to investigate the clinical manifestations, diagnosis, therapy and prognosis of lymphoplasmacytic lymphoma/Waldenström macroglobulinemia (LPL/WM), 16 patients with LPL/WM were analyzed retrospectively. The results showed that the average age of 16 patients with LPL/WM was 65.1 years old, the most common syndromes were anemia and hyperviscosity syndrome, bone marrows were composed of small lymphocyte, admixed with variable numbers of plasma cells and plasmacytoid lymphocytes. And lymph node biopsy revealed that most cells expressed B-cell-associated antigen. Among the 16 cases, complete remission was 25%, overall response rate (ORR) was 81.3%, overall survival time was 6 to 108 months. 3 patients died and survival rate was 81.3 %. It is concluded that the clinical course of LPL/WM is typically indolent. These patients can acquire remission in clinic, but can not be cured, some of them can transform into patients with more malignant lymphoma.