We report on a 35-week gestation female fetus with Hutchinson-Gilford progeria (HGP). This patient, who is the first reported with neonatal HGP in the English literature but is the fourth, counting three previous French cases, supports the existence of a more severe prenatal form of progeria. She died 7 hours after birth and presented with intrauterine growth retardation, premature aging, absence of subcutaneous fat, brachydactyly, absent nipples, hypoplastic external genitalia, and abnormal ear lobes. The child's combination of clinical and skeletal manifestations differentiates this form of HGP from other progeroid syndromes with neonatal presentation. We also report previously undescribed autopsy findings including premature loss of hair follicles, premature regression of the renal nephrogenic layer, and premature closure of the growth plates in the distal phalanges that may be related to the aging processes in this condition. We could not find any histological data to support acro-osteolysis, which is the radiographic sign of brachydactyly. The terminal phalanges in HGP seem to be underdeveloped rather than osteolytic.
Eosinophilic esophagitis (EE) is a rarely diagnosed condition involving eosinophilic infiltration of the esophageal mucosa The hallmark of this condition is intermittent and often painful dysphagia that may become constant as the disease progresses. It was initially included within the more general condition known as eosinophilic gastroenteritis but it is now considered an independent entity. Attwood et al. called attention to eosinophilic esophagitis as a distinct clinical condition in 1993. Although eosinophilic esophagitis was thought to occur primarily in children, a significant body of evidence suggests that it affects adults as well. We describe a clinical case of a young woman with a long-standing history of dysphagia affected of this rare entity.
radiotherapy. There were also recurrent solitary bullae on the right side of her neck, in the oral mucosa and on the right side of her forehead near the hairline (Fig. 1). The lesions continued to recur after she stopped taking Tamoxifen. Other medications she was taking were pravastatin, aspirin, calcium and iron supplements.She had a wide local-excision and sentinel lymph node biopsy for invasive lobular carcinoma of the right breast (T2N0, 2.7 cm in diameter) 5 months earlier, followed by treatment with 42.4 Gy medial and lateral tangential whole breast photon irradiation. The tumor was located in the lateral portion of the inframammary fold and this area received a 10 Gy vertex (caudocranial) electron boost. A few bullae appeared and disappeared repeatedly in the skin of the right breast beginning 2 weeks after the start of radiotherapy. The number and severity increased after radiotherapy ended, when the bullae in the neck, oral mucosa, and forehead also appeared. Punch biopsy of a bullous lesion on the skin of the breast was carried out and pathologic findings were compatible with pemphigoid-like, radiation associated changes. The lesions were subsequently controlled with intermittent local applications of 0.05% clobetasol.Radiotherapy is one of several physical agents including ultraviolet light, thermal burns, wounds, and skin grafts that have been reported to induce bullous pemphigoid in normal skin. A spontaneous remission may occur on average after 2 years. Treatment suppresses the eruption but does not cure it, although spontaneous remission may occur in both treated and untreated patients.A round to oval-shaped nonhomogeneus nodule with calcification was detected on mammogram of a 70-year-old woman (Fig. 1) with a 10 years history of a lump at the junction of upper quadrants of the right breast. She told that the nodule has grown slightly in the last year. Fine-needle aspiration cytology (FNAC) was performed with a 25-gauge needle attached to a 10 mL syringe. Three slides were obtained; two were stained with Diff-Quik and one with Papanicolaou stain. Microscopic examination revealed fragments of laminated membrane with parallel striations (Fig. 2), dispersed refractile hooklets Figure 1. Right breast with bullae in various stages of evolution and healing. The scar is in the inframammary fold. Erythema following radiotherapy is visible in the skin around the scar. Inset: a solitary bulla near the hairline caused by scatter during the vertex boost.
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