ABSTRACT
Background: Arthrochalasia type Ehlers-Danlos Syndrome (EDS) is a connective tissue disease characterized by severe generalized joint hypermobility, congenital bilateral hip dislocations, and recurrent joint subluxations and dislocations. Only one study has reported bone fragility resulting in fractures. The genetic abnormality underlying this disorder is a variant in the COL1A1 gene causing entire or partial loss of exon 6, resulting in defective type 1 collagen synthesis. Case Report: We report a female infant born at 35 weeks of gestation presenting with pathologic skull fracture following vaginal delivery. Genetic testing revealed a pathogenic variant in the COL1A1 gene (c.472-1G > C), consistent with arthrochalasia type EDS, reported previously. Conclusion: This report adds pathologic fractures to the phenotypic breadth of this type of EDS and reinforces the importance of including the condition on the differential diagnosis when early onset non-accidental injury or trauma is being considered.
Subject(s)
Ehlers-Danlos Syndrome , Fractures, Spontaneous , Skull Fractures , Collagen Type I/genetics , Ehlers-Danlos Syndrome/complications , Ehlers-Danlos Syndrome/diagnosis , Ehlers-Danlos Syndrome/genetics , Exons , Female , Humans , Infant , Infant, NewbornABSTRACT
BACKGROUND: Chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) is associated with an increased risk of a second malignancy. METHODS: We conducted a retrospective clinicopathologic review of 12 patients with CLL/SLL who developed a second lymphoma in the skin. Demographic data, clinical information, and histopathology from 31 biopsies were recorded. Cases of secondary cutaneous involvement by CLL/SLL (leukemia cutis) and non-primary cutaneous lymphomas were excluded. RESULTS: A wide variety of primary cutaneous lymphomas was identified, including classic mycosis fungoides (3), cutaneous marginal zone lymphoma (2), primary cutaneous peripheral T-cell lymphoma unspecified (2), folliculotropic mycosis fungoides (1), Sézary syndrome (1), cutaneous gamma-delta T-cell lymphoma (1), cutaneous CD8+ aggressive epidermotropic cytotoxic T-cell lymphoma (1), and cutaneous anaplastic large cell lymphoma (1). A male predominance was observed, and the average age was 74.1 years. In all patients, CLL/SLL predated the development of the second lymphoma, which was aggressive in the majority of cases (58%). Aggressive cytotoxic T-cell lymphomas, generally rare neoplasms, were relatively common (30%). CONCLUSIONS: CLL/SLL patients may develop a second lymphoma in the skin, which may be aggressive. Atypical cutaneous lymphoid infiltrates in this patient population should not be assumed to represent secondary CLL/SLL involvement and require thorough immunohistochemical analysis.
Subject(s)
Leukemia, Lymphocytic, Chronic, B-Cell/pathology , Lymphoma/diagnosis , Mycosis Fungoides/pathology , Skin Neoplasms/pathology , Aged , Aged, 80 and over , Biomarkers, Tumor/analysis , Biopsy , Female , Humans , Leukemia, Lymphocytic, Chronic, B-Cell/complications , Lymphoma, B-Cell, Marginal Zone/complications , Lymphoma, B-Cell, Marginal Zone/pathology , Lymphoma, Large-Cell, Anaplastic/complications , Lymphoma, Large-Cell, Anaplastic/pathology , Lymphoma, T-Cell, Cutaneous/complications , Lymphoma, T-Cell, Cutaneous/pathology , Male , Middle Aged , Mycosis Fungoides/complications , Neoplasms, Second Primary/pathology , Retrospective Studies , Sezary Syndrome/complications , Sezary Syndrome/pathology , Skin Neoplasms/metabolismABSTRACT
We present a case of myocarditis in a 26-year-old pregnant woman at 29 weeks gestation. Despite optimal medical therapy, she experienced a cardiac arrest 10 days postadmission. An interdisciplinary team facilitated emergency delivery of her baby by perimortem (ie, during maternal cardiac arrest) Caesarean section and initiation of emergency mechanical circulatory support. A cardiac biopsy revealed a mixed eosinophilic and histiocytic infiltrate. After a course of steroid therapy, she experienced full recovery. Both the patient and the infant are alive and well. The case highlights the success of modern interdisciplinary care, as well as ongoing gaps in our knowledge of myocarditis.
Nous présentons un cas de myocardite chez une femme de 26 ans enceinte de 29 semaines, qui a subi un arrêt cardiaque 10 jours après son admission. Une équipe interdisciplinaire a favorisé l'accouchement d'urgence par césarienne perimortem (c.-à-d. durant l'arrêt cardiaque de la mère), et la mise en place en urgence d'une assistance mécanique. Une biopsie cardiaque a révélé un infiltrat mixte d'éosinophiles et d'histiocytes. Il y a eu récupération complète de la fonction ventriculaire après un traitement aux stéroïdes. La patiente et l'enfant sont en vie et se portent bien. Le cas témoigne de la réussite de la pratique moderne des soins interdisciplinaires, et met en lumière les lacunes actuelles de nos connaissances sur la myocardite.
