Epidermolysis bullosa with pyloric atresia associated with compound heterozygous ITGB4 pathogenic variants: Minimal skin involvement but severe mucocutaneous disease.

We report a case of junctional epidermolysis bullosa with pyloric atresia (JEB-PA) with minimal skin involvement but severe protein-losing enteropathy and airway involvement. Genetic analysis revealed heterozygous mutations in the ITGB4 gene encoding integrin ß4 protein. Parental testing confirmed inheritance of frameshift variant (c.794dupC) as maternal and splice site variant (c.1608C>T/p.Cys536Cys) as paternal. Immunofluorescence mapping of her skin revealed a subepidermal blister with decreased and frayed integrin ß4 at both the floor and the roof of the blister, while the intestinal mucosa showed complete absence of integrin ß4. We review the literature and discuss the differential expression of integrins in the skin and gastrointestinal tract, as well as the role of chronic inflammation in the pathogenesis of EB.

A Case of Mesenchymal Hamartoma of the Chest Wall in a 4-Month-Old Infant.

BACKGROUND Mesenchymal hamartoma of the chest wall is a rare benign lesion that typically presents in early infancy. However, the clinical presentation can be atypical, with imaging features that mimic infection or malignancy. Imaging combined with histopathology is essential in the diagnosis. A case of mesenchymal hamartoma of the chest wall in a 4-month-old infant is presented. CASE REPORT A 4-month-old infant had an incidental finding of a large right-sided chest wall mass. Initial imaging included thoracoabdominal ultrasound (US), computed tomography (CT), and magnetic resonance imaging (MRI). Histology of an initial open biopsy was inconclusive. The diagnosis of mesenchymal hamartoma was confirmed by histology of the resection specimen, which showed a benign, mixed, chondroid, mesenchymal, and cystic hamartoma with areas of calcification and ossification. CONCLUSIONS This case showed that the diagnosis of mesenchymal hamartoma of the chest wall, which is characterized by heterogeneous components, may require a combined approach for the diagnosis that includes imaging and histology. Increased clinical awareness of mesenchymal hamartoma in infants may help to guide the approach to the correct diagnosis and prevent unnecessarily radical treatment for this benign condition.

Langerhans cell histiocytosis: another cause of a fluid-fluid level within an appendicular bony lesion.

We report a case of Langerhans cell histiocytosis (LCH) occurring in the pelvis of a 2-year 11-month-old female with fluid-fluid level seen on MRI. Aspiration of the fluid during biopsy showed it to be blood with a few inflammatory cells and eosinophils. Tissue obtained during the biopsy confirmed the diagnosis to be LCH. While fluid-fluid levels have been infrequently encountered in skull lesions due to LCH, they have yet to be reported in lesions of the appendicular skeleton. The aim of this report is to familiarize radiologists with the fact that fluid-fluid levels can occur in LCH of the appendicular skeleton in children.