Infantile systemic hyalinosis (ISH) is a rare, autosomal recessive disorder characterized by widespread abnormal growth of hyalinized fibrous tissue in skin and mucosae. The typical clinical picture consists of the development of joint contractures, skin lesions, and severe, chronic pain. We report the case of a 2-year-old Pakistani girl, who presented to our clinic with papulonodular lesions, gingival hyperplasia, hypotonia, and joint contractures. Skin biopsy revealed hyaline deposits, and genetic testing revealed a mutation in the protein Anthrax toxin receptor 2 (ANTXR2).
Pyoderma gangrenosum (PG) is a rare noninfectious skin condition which clinical picture can overlap with that of the diabetic foot. Meticulous physical examination along with biopsy and magnetic resonance imaging (MRI) can make the distinction easier, saving the patients from undergoing a debilitating intervention.
We report a case of pathologically proven PG in the right ankle region of a 55-year old male with known uncontrolled diabetes mellitus and inflammatory bowel disease.
Radiographs revealed increased soft tissue density overlying the lateral melleolus of the right ankle. MRI showed a well-defined soft tissue mass with heterogeneously intrinsically high signal intensity on T1- and on T2-weighted images, and heterogeneous peripheral enhancement on fat-suppressed, contrast-enhanced T1-weighted images. Histologically, diffuse neutrophilic infiltrate throughout the dermis was present without micro-organisms. This is the first report of MRI findings of PG in the ankle. We also summarize the findings of previously reported cases of PG.
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