No abstract

Autosomal recessive hyper‐IgE syndrome is a primary immunodeficiency that results from a mutation in the DOCK8 gene. We report a case of a patient presenting with severe eczema, atopy, and recurrent skin infections since the first months of life. The diagnosis of autosomal recessive hyper‐IgE syndrome was made at the age of 7 by a positive DOCK8 genetic test. The patient underwent hematopoietic stem cell transplantation, with complete remission of the various manifestations.

Benign lymphangioendothelioma (BL, acquired progressive lymphangioma) is a rare, slow-growing lymphatic tumor, first described 40 years ago, with fewer than 50 published cases. Clinically, it presents as a skin-colored or erythematous patch. Definitive diagnosis requires histopathological examination. The immunohistochemical staining

Introduction: Diagnostic uncertainty is an inseparable component of medical practice. The dichotomous classification of melanocytic lesions as benign or malignant has been replaced in recent years by a more flexible approach in which diagnostic uncertainty is recognized and accepted. Methods: In order to characterize the population of melanocytic proliferations of uncertain malignant potential diagnosed at our center between 2007 and 2017, histopathological reports of melanocytic lesions classified, in this period, as either dysplastic or malignant were analyzed. Results: Twenty-three lesions (4.3%) with borderline histopathological features or uncertain malignant potential were identified. The mean patient age was 34.8 years. Sixteen lesions (69.6%) were observed by a second pathologist. The most frequently performed treatment was wide excision. A sentinel lymph node biopsy was performed on 2 patients, both being negative. The median follow-up time was 22 months, and there was no recurrence of any treated lesion. Discussion: The controversy of the subject extends from the nature and classification of these lesions to their treatment. In this work we perform a statistical review of the population of melanocytic proliferations of uncertain malignant potential diagnosed in our department.

Angiomatoid Spitz nevus is a rare tumor that combines the classic aspects of Spitz nevus with a prominent vascular component. Clinically, it presents as a pink or brownish papule, usually solitary, in the extremities of young adults. On histology, it is characterized by a proliferation of epithelioid or spindle cell melanocytes embedded in a fibrous stroma, where a dense proliferation of small vessels is evident. The differential diagnosis with malignant melanoma can be difficult, particularly with the desmoplastic variant or with those with marked regression. Its behavior is benign, as suggested by the absence of local recurrences or distant metastases during long-term follow-up.