Effective rescue treatment with vemurafenib of an infant with high-risk Langerhans cell histiocytosis.

INTRODUCTION: The recently identified role of a BRAF somatic mutation in the pathophysiology of Langerhans cell histiocytosis (LCH) offers new therapeutic options. Herein we describe the case of a 10-month-old infant with refractory high-risk LCH successfully treated with vemurafenib. OBSERVATION: The patient first presented with cutaneous LCH at the age of 2 months. The disease remained undiagnosed until she was 6 months old, when it rapidly evolved to a multisystemic high-risk and life-threatening disease, refractory to 2 lines of chemotherapy. BRAFV600E mutation was found at skin biopsy, and targeted therapy with vemurafenib was started when she was 10 months old. The treatment induced a fast and sustained response, but rapid relapse occurred after treatment discontinuation, leading to resumption of treatment, once more resulting in a sustained response. CONCLUSION: Our case highlights the first-line role of dermatologists in establishing the diagnosis of LCH, especially in children, in whom the eruption may be difficult to identify, leading to delayed diagnosis. Targeted therapy with vemurafenib has recently been described in children in this indication and our results support its efficacy, highlighting the need for prolonged treatment and raising the question of maintenance therapy, as well as the necessity for large-scale and long-term studies.

[Palmoplantar neutrophilic eccrine hidradenitis with general extension in a child in remission after acute lymphoblastic leukemia]. / Hidradénite eccrine neutrophilique palmo-plantaire avec extension généralisée chez un enfant en rémission d'une leucémie aiguë lymphoblastique.

BACKGROUND: Neutrophilic eccrine hidradenitis (NEH) is a form of neutrophilic dermatitis characterized by tender erythematous and painful papules involving the trunk, extremities and face. The generalized form is associated with malignant hemopathies. The palmoplantar form occurs in children without any context of malignancy. Histology shows a neutrophilic infiltrate surrounding and infiltrating the eccrine glands associated with vacuolar degeneration and necrosis of the epithelial secretory portion. PATIENTS AND METHODS: We report the case of a 4-year-old girl with palmoplantar HEN progressing to the generalized form while in remission from acute lymphoblastic leukemia. DISCUSSION: Progression of HEN from the palmoplantar form to the generalized form has never been published previously in the literature.

[A case of von Hippel-Lindau disease diagnosed at the autopsy]. / A propos d'un cas de maladie de von Hippel-Lindau diagnostiqué lors de l'autopsie.

A 46-year-old woman presents with walk instability. A diagnosis of cerebellar hemangioblastoma is made on MRI and neurosurgical excision was performed. In the postoperative course, the patient died of a bulbar cerebral stroke with respiratory distress. At the autopsy, the finding of a bilateral renal clear cell carcinoma in addition to the cerebellar hemangioblastoma allows for the diagnosis of von Hippel-Lindau disease. It is an inherited, autosomal dominant syndrome charaterized by a VHL gene mutation. Affected individuals are at risk of developing various benign and malignant tumors of multiple organs, reviewed in this article. Despite a decrease of number of necropsy, this case as the review of literature demonstrates clinical importance of autopsy.

Refractory Hand Ulceration: A Case of Chronic Ulceration and Sporotrichoid Spread in a Fish Tank Hobbyist following Mycobacterium marinum Infection.

We report the case of a 35-year-old man with a chronic ulceration of the hand in whom an infection with Mycobacterium marinum was diagnosed. Clarithromycin and doxycycline were prescribed, resulting in a slow resolution of the ulceration. M. marinum is a nontuberculous mycobacterium that causes skin lesions such as nodules, ulcerations, and sporotrichoid spread, but may also be responsible for osteoarticular lesions. In this case report, we discuss the clinical characteristics of this condition, as well as its diagnostic methods and treatments.