Eccrine Nevus in the Forearm of a 16-Year-Old Presenting as Unilateral Hyperhidrosis: A Clinicopathological Correlation Paradigm.

A case of a purely eccrine nevus in an adolescent patient presenting with focal hyperhidrosis on an area comprising the left forearm and the dorsal aspect of the left hand is described. No clinically evident lesions were identifiable. Dermatopathologic findings were subtle, showing only a slight increase in the number of eccrine glands. Clinicopathological correlation was paramount to achieve the diagnosis.

Giant Cell Reparative Granuloma of the Orbit: Clinicopathological Characteristics and Treatment.

Giant cell reparative granuloma (GCRG) is a rare fibroosseous lesion uncommonly seen in the orbital area. Although benign, it is known to be recurrent and locally destructive. We report two cases of GCRG of the orbit. In both cases, computed tomography revealed a heterogeneously growing well-defined mass, arising from the roof of the orbit, affecting the cortex, and invading the orbit. In the first case, the mass extended into the anterior cranial fossa. Magnetic resonance imaging with gadolinium showed, in both cases, a cystic character of the lesion with fluid levels. The surgical treatment was performed via an upper crease incision. An ultrasonic aspirator system was used to remove the tumor tissue and its extension into cranial fossa. Careful histopathologic analysis established the diagnosis of GCRG. Symptoms resolved completely with no evidence of recurrence after a follow-up of 18 and 14 months, respectively. We present the clinicopathological and radiological findings, and we describe the surgical approach. As a rare entity, GCRG of the orbit should be considered in differential diagnosis of fibroosseous orbital masses. Complete surgical excision carries a low risk of recurrence.

["Staghorn" heart. The pathology of the explanted heart of a patient with clinical diagnosis and genetic variants of non-compacted myocardiopathy]. / Corazón en «asta de ciervo¼. Estudio anatomopatológico del corazón explantado de una paciente con diagnóstico clínico y variantes genéticas de miocardiopatía no compactada.

Non-compacted myocardiopathy is rare, the prevalence ranging between 0.01-0.26%. in adults. We present the macroscopic, microscopic and electron microscopy findings of cardiac transplant samples from a 36-year-old patient diagnosed with non-compacted myocardiopathy. This condition shows a high genetic and phenotypic heterogeneity, with superposition of different phenotypes and variability in the hereditary patterns. Clinical diagnosis is established by coupling imaging results to clinical characteristics. The clinical manifestations of non-compacted myocardiopathy are variable, including arrhythmic events and variable degrees of cardiac failure, although some patients may be asymptomatic. In certain cases a heart transplant may be necessary. The differential diagnosis should be made with hypertrophic and dilated myocardiopathy. However, only a few reports can be found in the literature that discuss the pathology of this condition.

Radiological Findings in Multidetector Computed Tomography (MDCT) of Hereditary and Sporadic Pulmonary Veno-Occlusive Disease: Certainties and Uncertainties.

Pulmonary veno-occlusive disease (PVOD) is a very infrequent form of pulmonary arterial hypertension with an aggressive clinical course, poor response to specific vasodilator treatment, and low survival. Confirming a definitive diagnosis is essential to guide treatment and assess lung transplantation. However, in the absence of histological or genetic confirmation, the diagnosis is complex, requiring a clinical suspicion. Multidetector computed tomography (MDCT) is an essential part of the non-invasive diagnostic tools of PVOD. We retrospectively reviewed the MDCT findings from a consecutive series of 25 patients diagnosed with PVOD, 9 with the sporadic form and 16 with the hereditary form of the disease. The presence and extent of typical findings of the diagnostic triad were assessed in all patients (ground glass parenchymal involvement, septal lines, and lymphadenopathy). In our series, 92% of patients showed at least two of the radiological findings described as typical of the disease. All patients presented at least one typical radiological characteristic. The incidence of radiological findings considered typical is very high, however was not associated with greater hemodynamic severity nor to the development of acute lung edema. No significant differences were found between the two groups. A poorly expressive MDCT does not exclude the disease.

Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4.

BACKGROUND: The knowledge of hereditary predisposition has changed our understanding of Pulmonary Arterial Hypertension. Genetic testing has been widely extended and the application of Pulmonary Arterial Hypertension specific gene panels has allowed its inclusion in the diagnostic workup and increase the diagnostic ratio compared to the traditional sequencing techniques. This is particularly important in the differential diagnosis between Pulmonary Arterial Hypertension and Pulmonary Venoocclusive Disease. METHODS: Since November 2011, genetic testing is offered to all patients with idiopathic, hereditable and associated forms of Pulmonary Arterial Hypertension or Pulmonary Venoocclusive Disease included in the Spanish Registry of Pulmonary Arterial Hypertension. Herein, we present the clinical phenotype and prognosis of all Pulmonary Arterial Hypertension patients with disease-associated variants in TBX4. RESULTS: Out of 579 adults and 45 children, we found in eight patients from seven families, disease-causing associated variants in TBX4. All adult patients had a moderate-severe reduction in diffusion capacity. However, we observed a wide spectrum of clinical presentations, including Pulmonary Venoocclusive Disease suspicion, interstitial lung disease, pulmonary vascular abnormalities and congenital heart disease. CONCLUSIONS: Genetic testing is now essential for a correct diagnosis work-up in Pulmonary Arterial Hypertension. TBX4-associated Pulmonary Arterial Hypertension has marked clinical heterogeneity. In this regard, a genetic study is extremely useful to obtain an accurate diagnosis and provide appropriate management.

Variable Expressivity of a Founder Mutation in the EIF2AK4 Gene in Hereditary Pulmonary Veno-occlusive Disease and Its Impact on Survival.

INTRODUCTION AND OBJECTIVES: Hereditary pulmonary veno-occlusive disease (PVOD) has been associated with biallelic mutations in EIF2AK4 with the recent discovery of a founder mutation in Iberian Romani patients with familial PVOD. The aims of this study were phenotypical characterization and survival analysis of Iberian Romani patients with familial PVOD carrying the founder p.Pro1115Leu mutation in EIF2AK4, according to their tolerance to pulmonary vasodilators (PVD). Familial genetic screening was conducted, as well as assessment of sociocultural determinants with a potential influence on disease course. METHODS: Observational study of Romani patients with familial PVOD included in the Spanish Registry of Pulmonary Arterial Hypertension. Genetic screening of EIF2AK4 was performed in index cases and relatives between November 2011 and July 2016 and histological pulmonary examination was carried out in patients who received a lung transplant or died. The patients were divided into 2 groups depending on their tolerance to PVD, with comparison of baseline characteristics and survival free of death or lung transplant. RESULTS: Eighteen Romani patients were included: 9 index cases and 9 relatives. The biallelic founder mutation in EIF2AK4 was found in all affected cases and 2 unaffected relatives. Family screening showed 34.2% of healthy heterozygotes, high consanguinity, young age at childbirth, and frequent multiparity. Prognosis was bleak, with significant differences depending on tolerance to PVD. CONCLUSIONS: We describe 2 phenotypes of hereditary PVOD depending on tolerance to PVD, with prognostic impact and familial distribution. Consanguinity may have a negative impact on the transmission of PVOD, with familial genetic screening showing high effectiveness.

Influence of platelet-rich plasma on the histologic characteristics of the autologous fat graft to the upper lip of rabbits.

BACKGROUND: This study evaluated the influence of platelet-rich plasma (PRP) on the histologic characteristics of autologous fat grafts to the upper lip of rabbits. METHODS: Nine New Zealand white rabbits were used. Eight of the rabbits underwent fat harvest from the groin fat pads using a modified Coleman technique. One side of the upper lip was infiltrated with autologous fat and the other side with fat and PRP. Four of the infiltrated rabbits were killed 8 weeks after the lip augmentation, and the remaining four infiltrated rabbits plus one control case were killed 12 weeks after the procedure. Coronal sections of both upper lips were analyzed microscopically to evaluate the quality of the fat graft, the inflammatory reaction, the presence of oil cysts, the degree of fibrosis, and the neovascularization. RESULTS: The infiltration of adipose tissue plus PRP presented less inflammatory reaction (p < 0.05) and fewer oil cysts (p < 0.05) than the infiltration of adipose tissue without PRP. CONCLUSIONS: The infiltration of fat tissue plus PRP generates a lower inflammatory reaction and less formation of oil cysts than the infiltration of isolated fat. Platelet-rich plasma increases the maintenance of the transplanted fat cells.