Renal Angiomyolipoma Causing Inferior Vena Cava Thrombus in a Young Girl With Tuberous Sclerosis.

Angiomyolipomas (AML), also known as hamartomas, are benign mesenchymal tumors of the kidneys which consist of vascular tissue, smooth muscles, and adipose tissue, with a higher prevalence in females than males. AML may be associated with tuberous sclerosis, and the growth of the mass may present as hematuria or flank pain. We present a case of a 14-year-old female patient who had a known case of tuberous sclerosis since early childhood. She has a history of numerous bilateral renal masses radiographically consistent with AML. A special and unique entity of our case is the age of presentation which is 14 years and the presence of TSC. In contrast to our case, which was invading the right renal vein and IVC at a young age, AML is well known for its benign nature. According to a recent literature review, the youngest patient reported was 16 years old. Typically, non-complicated AMLs less than 4 cm in size are managed by annual radiological imaging which is preferably a CT scan, while larger AMLs of more than 4 cm that present with perinephric hemorrhages or intralesional aneurysms are treated by partial nephrectomy or selective angioembolization. A radical nephrectomy and IVC thrombectomy are typically necessary due to the risks that the IVC thrombus carries as well as the AML itself and its unpredictable behavior. In cases like ours with the extension into the renal vein and IVC, the surgical approach is similar to the venous invasion of renal cell carcinomas.

D-penicillamine-induced pseudo-pseudoxanthoma elasticum and extensive elastosis perforans serpiginosa with excellent response to acitretin.

D-penicillamine (DPA)-induced pseudo-pseudoxanthoma elasticum (PXE) and elastosis perforans serpiginosa (EPS) has been reported in the past, but most of the treatment modalities used before have a sub.optimal response. We report a case of DPA-induced pseudo-PXE with extensive EPS who had an excellent rapid response to acitretin. To the best of our knowledge no such report has been published in the past, even though there is a single report of effectiveness of isotretinoin in elastosis perforans serpiginosa. SIMILAR CASES PUBLISHED: One similar case but with a different medication (reference 13).

Long-term follow-up of post renal transplantation Epstein-Barr virus-associated smooth muscle tumors: Report of two cases and review of the literature.

Epstein-Barr virus (EBV)-associated smooth muscle tumors (SMTs) following solid organ transplantation are very rare slow growing neoplasms. Most tumors present with non-specific symptoms mainly related to tumor location. Post-transplant EBV-associated small muscle tumors have been reported in various anatomical locations. The tumors have a predilection to unusual sites for SMTs and tend to be multifocal. The histologic appearance of these tumors generally does not predict their clinical behavior. Surgery and reduction in immunosuppression are the main stays of management. We herein report two cases of post renal transplant EBV-associated SMTs with over 6 years of follow-up. A 33-year-old male patient presented with hepatic lesions and a 49-year-old female patient presented with multiple mesenteric and gluteal lesions. The tumors were diagnosed 6 and 10 years after renal transplantation, respectively. Surgical resection and reduction/discontinuation of immunosuppression were successful in delaying progression of the disease; however, in both cases, the allografts failed during the course of management.

Recurrent insulinoma in a 10-year-old boy with Down's syndrome.

An insulinoma is a rare tumour with an incidence of four cases per million per year in adults. The incidence in children is not established. There is limited literature available in children with insulinoma, and only one case is reported in association with Down's syndrome in adults. Insulinoma diagnosis is frequently missed in adults as well as in children. The Whipple triad is the most striking feature although it has limited application in young children. Hypoglycaemia with elevated insulin, C-peptide and absent ketones is highly suggestive of hyperinsulinism. We present a case of 10-year-old boy with Down's syndrome with recurrent insulinoma. He was initially misdiagnosed as having an adrenal insufficiency and developed cushingoid features and obesity secondary to hydrocortisone treatment and excessive sugar intake. The tumour was successfully localised in the head of the pancreas with an MRI and octreotide scan on first presentation. Medical treatment with diazoxide and octreotide could not achieve normal blood glucose levels. The insulinoma was laparoscopically enucleated and pathological examination confirmed a neuroendocrine tumour. Subsequently, he had complete resolution of symptoms. He had a recurrence after 2 years with frequent episodes of hypoglycaemia. The biochemical workup was suggestive of hyperinsulinism. MRI and PET scan confirmed the recurrence at the same site (head of the pancreas). He had an open laparotomy for insulinoma resection. The pathology was consistent with benign insulinoma, and subsequently, he had complete resolution of symptoms. LEARNING POINTS: Insulinoma is a very rare tumour in children; it should be considered in the differential diagnosis of hypoglycaemia with absent ketones.Refractory neurological symptoms like seizure, migraine, mood changes and regression of learning abilities should suggest evaluation for hypoglycaemia.MRI with contrast and PET scan would localise the majority of pancreatic beta islet cell lesions.Medical treatment with diazoxide, octreotide and the addition of corn starch in feeds is not curative but can be supportive to maintain normoglycemia until the surgical resection.Surgical resection is the only curative treatment. The surgical procedure of choice (laparoscopic/open laparotomy) depends on local expertise, preoperative localisation, tumour size and number.Surgical treatment results in complete resolution of symptoms, but all cases should be closely followed up to monitor for recurrence. The recurrence rate is four times higher in MEN1 cases.

Verticillium Species Skin Infection in a Renal Transplant Patient.

Verticillium species is a filamentous fungus that inhabits decaying vegetation and soil. It is known to cause disease in plants. Four cases of human infections have been reported previously in nontransplant patients. Here, we report the first case of Verticillium species skin infection in a transplant patient who was successfully treated with fluconazole monotherapy.

KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia.

Ectodermal dysplasia is a highly heterogeneous group of disorders that variably affect the derivatives of the ectoderm, primarily skin, hair, nails and teeth. TP63, itself mutated in ectodermal dysplasia, links many other ectodermal dysplasia disease genes through a regulatory network that maintains the balance between proliferation and differentiation of the epidermis and other ectodermal derivatives. The ectodermal knockout phenotype of five mouse genes that regulate and/or are regulated by TP63 (Irf6, Ikkα, Ripk4, Stratifin, and Kdf1) is strikingly similar and involves abnormal balance towards proliferation at the expense of differentiation, but only the first three have corresponding ectodermal phenotypes in humans. We describe a multigenerational Saudi family with an autosomal dominant form of hypohidrotic ectodermal dysplasia in which positional mapping and exome sequencing identified a novel variant in KDF1 that fully segregates with the phenotype. The recapitulation of the phenotype we observe in this family by the Kdf1-/- mouse suggests a causal role played by the KDF1 variant.

Seminoma presenting as a polypoid bladder mass: a case report.

We report a case of extragonadal seminoma presenting as a polypoid mass in the urinary bladder. The patient presented with two months history of hematuria. Evaluation by CT scan and cystoscopic examination revealed a polypoid mass in the base of the bladder. Biopsy of the mass revealed a classical type of seminoma. The diagnosis of seminoma was supported by strong immunostaining of the tumor cells for C-Kit and placental alkaline phosphatase. Thorough physical examination and radiologic imaging of other organ systems failed to reveal any other tumor. Both testes were found to be normal on examination and on ultrasound imaging. Patient responded well to chemotherapy. This case is unique because to the best of our knowledge there are no previously reported cases in the literature with seminoma presenting as a bladder mass.

Upper aero-digestive tract lymphomas presenting as polypoidal/pedunculated lesions: case report and review of literature.

AIM: To describe a case of diffuse large B cell lymphoma (DLBCL) presenting as a pedunculated/polypoidal mass in upper aero-digestive tract and to review pertinent literature. METHODS: Using Pubmed advanced search, case reports and literature were reviewed for this condition. RESULTS: A 16 year old female presented with history of shortness of breath when lying down, voice change, progressing odynophagia and feeling of throat lump. Direct visualization showed flower like pedunculated mass, attached to the left lateral oropharyngeal wall. Excision of this mass showed DLBCL and no disease anywhere. She received four cycles of Rituximab + CHOP and is disease-free for 4 years. Only 21 cases of pedunculated upper aero-digestive tract lymphomas have been reported in literature. Median age 53 years (16-90 years), males 80 %, females 20 %, localized disease (65 %). Common sites were endobronchial polypoid lesion (7 cases), nasal polyps (7), nasopharyngeal polyps (2), nose and paranasal sinus (1), laryngeal polyp (2) and one each as gum, esophagus and oropharyngeal (current case) polyp. Pathology showed aggressive lymphoma in 94 %. CONCLUSION: DLBCL as an extranodal pedunculated lesion in the oropharynx is very rare. Careful pathological evaluation is essential for these lesions for proper diagnosis.

Radiation- and chemotherapy-induced permanent alopecia: case series.

BACKGROUND: Radiation- and chemotherapy-induced alopecia is mostly temporary. However, permanent scalp alopecia is reported, albeit infrequently. OBJECTIVE: The objective of this observational case series was to determine the kind and doses of chemotherapeutic agents and radiation in inducing permanent alopecia of the scalp. METHODS AND RESULTS: Eleven patients referred to our department over a period of 3 years for permanent alopecia after chemotherapy/radiotherapy or combination therapy were included. A detailed medical and therapeutic history was obtained from each patient and from medical records. Photography was done, and the scalp biopsies were taken. Patients were divided into three groups according to the type of therapy. The first group received conditioning chemotherapy prior to bone marrow transplantation. The second group had radiation for brain tumors, and the third group received both. CONCLUSION: A comprehensive multicenter and multidisciplinary study is required to determine the definite causative agents, doses, and other cofactors that induce permanent alopecia following chemotherapy/radiotherapy, as well as the means to avoid this distressing outcome in surviving patients.

Lupus erythematosus-associated primary and secondary anetoderma.

BACKGROUND: Anetoderma (focal loss of dermal elastic tissue) can either be primary, which is an idiopathic occurrence of anetoderma in normal areas of the skin, or secondary, which is preceded by an inflammatory dermatosis in the same location. OBJECTIVE: Sporadic reports of lupus erythematosus-associated anetoderma have been described in the literature. All reported cases were positive for antiphospholipid antibodies. We present a patient with primary and secondary anetoderma with chronic lupus dermatitis and negative antiphospholipid antibodies. METHOD AND RESULTS: A middle-aged woman presented with a soft nodule with a wrinkled surface on her left arm and an erythematous atrophic plaque with a nodular surface on the chest. Skin biopsy from the left arm showed epidermal atrophy without inflammatory changes. Histologic findings of the lesion on the chest were consistent with chronic lupus dermatitis and secondary anetoderma. Laboratory investigations showed positive antinuclear antibody anti-double-stranded deoxyribonucleic acid (DNA) antibody but negative antiphospholipid antibodies. CONCLUSION: Primary and secondary anetodermas may occur in patients of lupus dermatitis without positive antiphospholipid antibodies.

T-cell lymphoma/Sézary syndrome in a liver transplant recipient.

BACKGROUND: Cutaneous T-cell lymphoma is a rare subtype of posttransplantation lymphoproliferative disease, with only 29 cases reported in the literature to date, the majority of which are post-renal transplantation. Only a few were reported after pancreas, heart, and bone marrow transplantation. There have been no reports of cutaneous T-cell lymphoma following liver transplantation to date. OBJECTIVE: We report a case of a 76-year-old male who developed generalized eczematous eruption 13 years after a liver transplantation. Investigations showed that it was Epstein-Barr virus-negative, CD3-positive, and CD4-positive cutaneous T-cell lymphoma with Sézary cells in the blood. CONCLUSION: This shows that cutaneous T-cell lymphoma/Sézary syndrome can also develop after liver transplantation. To our knowledge, there are no similar reports in the English literature.

Papillary thyroid carcinoma-like tumor of the kidney: a case report.

Thyroid carcinoma-like tumor of the kidney is an extremely rare variant of renal cell carcinoma. Most previously reported cases were incidental finding; and none of them showed papillary thyroid carcinoma (PTC) nuclear features. This study reports the first case of PTC (follicular variant)-like tumor of the kidney in which a female patient presented with hematuria, weight loss, and flank pain. Imaging studies revealed a left renal mass with enlarged hilar lymph nodes. Histologically, the renal tumor had a striking resemblance to follicular variant of PTC. However, no radiological abnormalities were found in the thyroid, mediastinum, or pelvis. Tumor cells were negative for thyroid markers (thyroglobulin and TTF1). According to the authors, this is the first case of PTC (follicular variant)-like tumor of the kidney.

Acquired cutis laxa type II (Marshall syndrome) in an 18-month-old child: a case report.

Cutis laxa is a rare disorder resulting from degradation and clumping of elastic fibers in dermis. Type II acquired cutis laxa, shows only cutaneous changes without any systemic involvement. We describe an infant with acquired cutis laxa type II following a generalized inflammatory dermatitis.