Marfan syndrome resulting from a rare pathogenic FBN1 variant, ascertained through a proband with IgG4-related arteriopathy.

A 57-year-old man with a family history of aortic aneurysm was found, during assessment of unexplained fever, to have an infrarenal aortic aneurysm requiring immediate repair. Dilatation of popliteal and iliac arteries was also present. Progressive aortic root dilatation with aortic regurgitation was documented from 70 years leading to valve-sparing aortic root replacement at 77 years, at which time genetic studies identified a likely pathogenic FBN1 missense variant c.6916C > T (p.Arg2306Cys) in exon 56. The proband's lenses were normally positioned and the Marfan syndrome (MFS) systemic score was 0/20. Cascade genetic testing identified 15 other family members with the FBN1 variant, several of whom had unsuspected aortic root dilatation; none had ectopia lentis or MFS systemic score ≥ 7. Segregation analysis resulted in reclassification of the FBN1 variant as pathogenic. The combination of thoracic aortic aneurysm and dissection (TAAD) and a pathogenic FBN1 variant in multiple family members allowed a diagnosis of MFS using the revised Ghent criteria. At 82 years, the proband's presenting abdominal aortic aneurysm was diagnosed retrospectively to have resulted from IgG4-related inflammatory aortopathy.

Selected Case From the Arkadi M. Rywlin International Pathology Slide Club: Peritoneal Lipofuscinosis and Deciduosis in Pregnancy.

Peritoneal lipofuscinosis is a very rarely recognized condition occurring during pregnancy characterized by brown pigmentation of the omentum and peritoneum, a decidual reaction and benign mesothelial cells. The iron negative pigment, which is likely to be confused with hemosiderin in the hematoxylin and eosin stain, is lipofuscin. The seminar case, apparently the third published, arose in a 37-year-old woman who presented in October 2015 at 24 weeks pregnancy with abdominal pain. Investigations revealed a ruptured left ovarian cyst and rising serum carcinoembryonic antige levels. At laparotomy, there was no free intraperitoneal blood but the omentum and uterine serosa were black. Histology showed lipofuscinosis and a decidual reaction. The patient delivered a normal baby in February 2016 and was clinically well after delivery. A left ovarian endometriotic cyst was removed in February 2017. The patient made a good recovery with no clinically apparent symptoms from the liposuscinosis. We postulate that the endometriotic cyst had ruptured and released blood into the peritoneal cavity in 2015. The iron from the red cells breakdown was then rapidly resorbed because of the pregnancy requirements for iron, leaving lipofuscin in peritoneal macrophages.

Selected Case From the Arkadi M. Rywlin International Pathology Slide: Massive Localized Lymphedema in Morbid Obesity Complicated by a Nonspecific Subcutaneous Abscess.

A 59-year-old morbidly obese female developed an ulcerated, slowly growing, 25 cm, subcutaneous, pendulous mass in the right groin which became infected and was excised in January 2014. The excised skin and subcutaneous fat weighed 1901 g. The skin exhibited a cobblestone appearance, the dermis was thickened and edematous, and the subcutaneous fat was traversed by fibrous septae. Histologically, there were dilated, thin-walled vessels, perivascular chronic inflammatory cells, slightly atypical macrophages, and expanded subcutaneous fibrous septae surrounding degenerating adipocytes resembling lipoblasts. Nearly all the Club members agreed with the submitted diagnosis of massive localized lymphedema in morbid obesity. Postoperatively, the wound healed well, there has been no recurrence or further infection as of July 2015, but the patient suffers from diabetes and congestive cardiac, the more common complications of morbid obesity.

Selected Case From the Arkadi M. Rywlin International Pathology Slide Club: Polypoid Endometriosis in the Pouch of Douglas in a Perimenopausal Woman.

A 50-year-old female had a hysterectomy and bilateral salpingo-oophorectomy for adenomyosis, uterine leiomyomas, ovarian and cervical endometriosis. Nine months later, organ imaging revealed a 43×74×52 mm, apparently malignant extraperitoneal mass lying between the vagina and rectum. The patient had been receiving a progestogen. Preoperative needle biopsies were interpreted as recurrent endometriosis. The mass was easily excised and sections were interpreted as polypoid endometriosis with a decidual reaction and foci of necrosis. Slides circulated to the club were from the excised specimen. The majority agreed with this diagnosis although a minority favored a Mullerian adenosarcoma. One club member commented that pseudosarcomatous change, including periglandular stromal cuffing and condensation, may occur in patients on hormones, especially tamoxifen. The patient was well with no recurrence 15 months after surgery.

Selected case from the Arkadi M. Rywlin International Pathology Slide Club: aggressive angiomyxoma, left labial region in a postmenopausal woman.

Club members unanimously agreed with the diagnosis of an unencapsulated 8×2.5×3.6 cm aggressive angiomyxoma, which was invading the voluntary muscles of the pelvic floor beneath the left labium of a female aged 65. The tumor consisted of histologically bland, round, stellate to fusiform cells set in a myxocollagenous matrix with occasional mast cells, a few extravasated red cells, and prominent blood vessels varying from thin-walled capillaries 7 µm in diameter to larger thick-walled vessels >250 µm in diameter. The tumor cells stained positively for estrogen and progesterone receptors, vimentin, and desmin. A stain for the nuclear transcription factor HMGA2, which is emerging as a useful and relatively specific marker for aggressive angiomyxoma, was not performed. The tumor had not recurred 4 years after the surgical excision. One member commented that virtually all lesions diagnosed as aggressive angiomyxomas in superficial locations turn out to be either fibroepithelial stromal polyps or superficial angiomyxomas. None of the club had seen a metastasizing aggressive angiomyxoma nor had they any experience with gonadotropin hormone-releasing and luteinizing hormone-releasing agonists therapy, which have been reported to cause tumor regression.