Ivett Miranda-Maldonado

A 5-year-old girl with a congenital ganglioneuroma diagnosed by fine needle aspiration biopsy: a case report

Introduction Ganglioneuroma is a rare, benign, neuroblastic tumor arising mainly from the central or peripheral autonomic nervous system, especially the sympathetic system. The most affected anatomical sites are the posterior mediastinum, retroperitoneum, adrenal gland and head and neck soft tissue. In the current literature, reports of ganglioneuroma diagnosed by fine-needle aspiration and its cytological appearance are scarce. Case Presentation A 5-year-old girl presented with a mass in the cervical region since birth. Laboratory routine tests were within normal limits, ultrasonography demonstrated a solid and well-circumscribed lesion in the soft tissues of the cervical region. Fine needle aspiration biopsy was carried out, and the obtained smears showed a mixture of mature ganglion cells and groups of spindle cells suggestive of schwann cell origin. A diagnosis of ganglioneuroma was suggested. Core biopsy and surgical resection confirmed this diagnosis. Conclusion Congenital ganglioneuroma of the cervical region is an uncommon soft tissue benign neoplasm of neuroblastic origin, and it should be considered in the differential diagnosis of head and neck pediatric soft tissue tumors. Fine needle aspiration biopsy technique is a reliable method that can be used with confidence when dealing with pediatric soft tissue tumors.

Ultraviolet A‐1 phototherapy as an alternative for resistant alopecia areata

association between tumor necrosis factor inhibitor therapy and hemoglobin A1C and fasting glucose among psoriasis, psoriatic arthritis, and rheumatoid arthritis patients. J Drugs Dermatol 2015; 14: 159–166. 7 Wu JJ, Rowan CG, Bebchuk JD, Anthony MS. Association between tumor necrosis factor inhibitor therapy and blood pressure, C-reactive protein, and alanine aminotransferase among psoriasis, psoriatic arthritis, or rheumatoid arthritis patients. J Am Acad Dermatol 2015; 72: 917–9.

Angioimmunoblastic T-Cell Lymphoma: A Diagnostic Challenge

Angioimmunoblastic T-cell lymphoma (AITL) accounts for 15-20% of all peripheral T-cell lymphomas. It is a rare subtype of CD4 T-cell peripheral lymphoma that affects aged individuals, causing B symptoms, generalized lymphadenopathy and hepatosplenomegaly. Its pathogenesis is still unclear, but in some cases it has been associated with infection, allergic reaction or drug exposure. The majority of patients are diagnosed in an advanced stage and anthracycline based regimen is considered the first-line therapy. Skin involvement is not well characterized, occurring in up to 50% of patients and presenting as nonspecific rash, macules, papules, petechiae, purpura, nodules and urticaria. We present the illustrative case of a 55-year-old woman with an AITL who presented prominent skin findings, arthritis, lymphadenopathy and hypereosinophilia. Skin biopsy reported a T-cell lymphoma and the diagnosis of AITL was confirmed by an axillary lymph node biopsy, which was also positive for Epstein-Barr virus. Chemotherapy with CHOP-21 and thalidomide was given, accomplishing complete remission after six cycles.

Paraneoplastic pemphigus associated with primary pulmonar follicular dendritic cell sarcoma showing good response to treatment

References 1 Plasilova M, Chattopadhyay C, Pal P et al. Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome. J Med Genet 2004; 41: 609–614. 2 Reddy S, Comai L. Lamin A, farnesylation and aging. Exp Cell Res 2012; 318: 1–7. 3 Eriksson M, Brown WT, Gordon LB et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 2003; 423: 293–298. 4 Garg A, Subramanyam L, Agarwal AK et al. Atypical progeroid syndrome due to heterozygous missense LMNA mutations. J Clin Endocrinol Metab 2009; 94: 4971–4983. 5 Ding SL, Shen CY. Model of human aging: recent findings on Werner’s and Hutchinson-Gilford progeria syndromes. Clin Interv Aging 2008; 3: 431–444. 6 Lombardi F, Gullotta F, Columbaro M et al. Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype. J Clin Endocrinol Metab 2007; 92: 4467–4471. 7 Hegele RA, Cao H, Anderson CM, Hramiak IM. Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy. J Clin Endocrinol Metab 2000; 85: 3431–3435. 8 Moller DV, Pham TT, Gustafsson F et al. The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy. Eur J Heart Fail 2009; 11: 1031–1035.

Escalating dosimetry of UVA-1 in the treatment of alopecia areata

Phototherapy can be an option in unresponsive alopecia areata (AA); however, variable results have been reported with its use. We could not find literature of treatment with UVA‐1 in AA. A study was designed to evaluate progressive dosimetry to determine the initial dose and its increments.

Balloon Cell Melanoma and Its Metastasis, a Rare Entity

Balloon cell melanoma (BCM) with metastasis is a rarely occurring neoplasia. The incidence of BCM is low, and hence, the frequency of these lesions presenting metastasis is even less frequent. This review exposes the balloon cell metastasis cases that have been published and a new case. These cases share the histopathological features but the location of initial melanoma, age and sex vary. It is relevant for the dermatologist and dermatopathologist to keep in mind the diagnosis of BCM and consider the possibility of it metastasizing as nonpigmented skin lesions.

Ulcerated Radiodermatitis Induced after Fluoroscopically Guided Stent Implantation Angioplasty

Cases of radiation-induced skin injury after fluoroscopically guided procedures have been reported since 1996, though the majority of them have been published in Radiology and Cardiology literature, less frequently in Dermatology journals. Chronic radiation dermatitis induced by fluoroscopy can be difficult to diagnose; a high grade of suspicion is required. We report a case of an obese 46-year-old man with hypertension, dyslipidemia, and severe coronary artery disease. He developed a pruritic and painful atrophic ulcerated skin plaque over his left scapula, six months after fluoroscopically guided stent implantation angioplasty. The diagnosis of radiodermatitis was confirmed histologically. We report this case to emphasize the importance of recognizing fluoroscopy as a cause of radiation dermatitis. A good clinical follow-up at regular intervals is important after long and complicated procedures, since the most prevalent factor for injury is long exposure time.

Hair That Is Difficult to Manage in a Hispanic Girl

physical examination, her hair was light brown, with discrete glistening in some areas, along with a dry and unruly appearance ( Fig. 1 ). No other morphological defects were found upon physical examination. Dermoscopy did not reveal any relevant features, nor did examination under a light microscope. Scanning electron microscopy was not available; therefore, we decided to send some hair strands for pathology examination ( Fig. 2 ). What is your diagnosis? Question

Description of Genetic Variants in BRCA Genes in Mexican Patients with Ovarian Cancer: A First Step towards Implementing Personalized Medicine

Gynecologic cancers are among the leading causes of death worldwide, ovarian cancer being the one with the highest mortality rate. Olaparib is a targeted therapy used in patients presenting mutations in BRCA1 and BRCA2 genes. The aim of this study was to describe BRCA1 and BRCA2 gene variants in Mexican patients with ovarian cancer. Sequencing of BRCA1 and BRCA2 genes from tumors of 50 Mexican patients with ovarian cancer was made in a retrospective, non-randomized, and exploratory study. We found genetic variants in 48 of 50 cases. A total of 76 polymorphic variants were found in BRCA1, of which 50 (66%) had not been previously reported. Furthermore, 104 polymorphic variants were found in BRCA2, of which 63 (60%) had not been reported previously. Of these polymorphisms, 5/76 (6.6%) and 4/104 (3.8%) were classified as pathogenic in BRCA1 and BRCA2, respectively. We have described the genetic variants in BRCA1 and BRCA2 of tumors from Northeast Mexican patients with sporadic ovarian cancers. Our results showed that the use of genetic testing helps recognize patients that carry pathogenic variants which could be beneficial for personalized medicine treatments.

A case report of small bowel perforation secondary to cytomegalovirus related immune reconstitution inflammatory syndrome in an AIDS patient

Non-traumatic small bowel perforation is rare in adults but carries a high morbidity and mortality. The diagnosis is made on clinical suspicion, and the most common causes in developing countries are infectious diseases, being cytomegalovirus infection in immunocompromised patients the main etiology. We describe a patient with a recently diagnosed advanced stage HIV infection and an intestinal perforation associated with cytomegalovirus immune reconstitution inflammatory syndrome after highly active antiretroviral therapy initiation.