Epidermolytic hyperkeratosis is an unusual type of ichthyosis. This inherited keratinization disorder is characterized clinically by erythema, blistering, and peeling shortly after birth. It may resolve and be replaced with thick scaling. It can lead to life-threatening complications, such as sepsis. Histologically, there is a hyperkeratosis and vacuolar degeneration. Genetically, this is an autosomal dominant disease with complete penetrance; however, 50% are spontaneous mutations. The clinical phenotype is a result of alterations in the gene(s) for keratin 1 and /or 10. We review this disorder and its therapy, which is mainly symptomatic with emollients and retinoids.
We present 3 cases of small bowel diverticulitis ultimately presenting to our Emergency Department over a span of 2 years. Though the final diagnosis was the same, each patient's symptomatology was different, mimicking more common pathologies. Thus, it is important to consider this entity when confronted with signs and symptoms of acute abdomen, especially in the elderly. A missed or delayed diagnosis can lead to costly erroneous studies, incorrect treatments and delay in proper management, resulting in significant morbidity and even mortality. The variety of presentations can often be misleading; therefore, a high index of suspicion is needed on the part of the Emergency Department physician and Radiologist.
A 31-year-old black woman presented with a several month history of painless palpable thickening and erythema of her upper outer right breast. The patient's past medical history was significant for lupus panniculitis but did not reveal signs or symptoms of systemic lupus erythematosus (SLE). Based on her history, lupus mastitis was suspected as the cause of her current breast complaints and the patient was referred to our breast center for imaging. Digital mammography ( Fig. 1) revealed severe rightsided skin thickening and increased subjacent stromal density. Lymphadenopathy was present. No focal masses were identified and no calcifications were seen as is usually reported in association with lupus mastitis. A right breast ultrasound (Fig. 2) demonstrated skin thickening and subcutaneous hyperechogenicity without a focal mass. Contrast-enhanced magnetic resonance imaging (MRI) was then obtained (Fig. 3). Extensive skin thickening in the right upper outer breast was noted with moderate persistent and plateau enhancement (Type I ⁄ II kinetics) of the underlying subcutaneous tissues. A discrete mass was not seen. Bilateral axillary adenopathy was also noted, extending into the subpectoral region on the right. There were additional areas of subclinical, subcutaneous involvement evident in the upper inner quadrants of both breasts.Although the presumptive diagnosis was lupus mastitis, because the patient did not have systemic lupus and the imaging findings differed from that described in the literature for lupus mastitis, both a skin punch biopsy as well as a subcutaneous ultrasound guided core biopsy were performed. Pathology was consistent with lupus mastitis (Fig. 4). No neoplastic tissue was evident. Several months following core biopsy, the patient has had no adverse sequelae from the procedure and the site of biopsy has completely healed.Lupus panniculitis is a chronic inflammatory reaction of subcutaneous fat that occurs in a small percentage of patients with SLE. Inflammation affecting the subcutaneous fat of the breast is termed lupus Figure 1. MLO view of the right breast demonstrates severe skin thickening and subjacent stromal density with adenopathy. No masses or calcifications are seen.
We performed a retrospective review of 5375 aspirations performed during the last 16 years of noncomplex cysts. Cytology results and outcomes following aspirations of simple and complicated cysts performed by the senior author at our institution were reviewed. Complex cysts with associated solid components which were core biopsied are excluded from this review. We present our data as the largest series to date performed by one breast radiologist at a single institution. Our data separate cysts with atypia or malignant cytology into those sampled concurrently with solid neoplasms and those which were isolated lesions. Various technical issues which have not been previously addressed in the literature are discussed. Noncomplex cysts are benign 99% of the time. Cysts with papillary cytology require no further workup. Margin-negative seromas do not require cytologic analysis of fluid. Sixteen malignancies were revealed (0.3%), eight of which were solitary cysts (0.1%). Atypical cytology predicted malignancy in 21%; therefore, atypical cytology requires further workup. Malignant cytology was associated with breast cancer in 90.9% of patients; therefore, all patients with malignant cytology require biopsy.
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