Isabel Freitas

Multiple trichoepitheliomas: a novel mutation in the CYLD gene

Background  Trichoepitheliomas are benign neoplasms with follicular differentiation. They may present as a solitary lesion or as multiple lesions. Multiple trichoepitheliomas are inherited in an autosomal dominant pattern within families, with both variable penetrance and expressivity. Recent investigations support that mutations in CYLD, the gene affected in familial cylindromatosis as well as in Brooke–Spiegler syndrome, are also responsible for multiple trichoepitheliomas.

Long-term evaluation of endothelial function in Kawasaki disease patients

BACKGROUND Kawasaki disease is an acute systemic vasculitis. Cardiac complications are frequent and include endothelial dysfunction in patients with coronary anomalies. So far, the presence of endothelial dysfunction in patients with no coronary lesions has not been demonstrated. Peripheral arterial tonometry (Endo-PAT) measures the microvascular function in response to local ischaemia and has been validated in adult population, but its use in children is scarce. Aim To evaluate endothelial dysfunction in children as a long-term complication after Kawasaki disease using Endo-PAT. METHODS We evaluated two groups of subjects: (1) Kawasaki disease patients over 11 years of age, diagnosed for >5 years, with no coronary lesions, or any other risk factors for cardiovascular disease; (2) control group of individuals without cardiovascular risk factors. Patients and controls were clinically accessed. Endo-PAT was performed to determine reactive hyperaemia index and augmentation index. RESULTS A total of 35 individuals (21 males, age 21 ± 6 years) were evaluated (group 1: 19; controls: 16). Kawasaki disease patients presented significant lower reactive hyperaemia index (1.68 ± 0.49 versus 2.31 ± 0.53; p = 0.001). Augmentation index was similar in both groups (-10 ± 7 versus -11 ± 5; p > 0.005). Most patients with Kawasaki disease disclosed endothelial dysfunction (68%) compared with only 12% in controls. CONCLUSIONS Endo-PAT is feasible and reproducible in the child population. Endothelial dysfunction is a frequent long-term complication in patients after Kawasaki disease with normal appearing coronary arteries. However, these results need validation in a larger population.

Primary cutaneous CD30-positive large cell lymphoma

Primary cutaneous CD30‐positive large cell lymphoma is a recently described entity, recognized by immunohistochemical criteria. Spontaneous regression may occur and although relapses are frequent, most patients have a favourable prognosis. We describe a 83‐year‐old woman with a large ulcerated tumour on her right forearm, with 2 months evolution. Histological and immunohistochemical examination revealed a CD30‐positive large cell lymphoma. Systemic involvement was not detected. The tumour regressed spontaneously. Cutaneous relapses occurred one year later, all with spontaneous regression. After a 2‐year follow‐up period, the patient is well, without concurrent extracutaneous disease. This case is in keeping with other reports of spontaneous regression and favourable outcome of this type of cutaneous lymphoma.

The Role of Propranolol in the Treatment of Infantile Hemangioma

INTRODUCTION Infantile hemangioma (IH) is one of the most common childhood tumors. There are various medical or surgical therapeutic options, all with suboptimal results. Recently, the successful use of propranolol for involution of IH was described. We report the results of a single-center experience with this therapeutic option. OBJECTIVE To prospectively assess the efficacy and safety of propranolol in children with infantile hemangioma. METHODS We performed a prospective analysis of clinical data of all patients with IH referred to a pediatric cardiology center for baseline cardiovascular assessment prior to propranolol therapy. Propranolol was given at a starting dose of 1 mg/kg/day and titrated to a target dose of 2-3 mg/kg/day according to clinical response. Efficacy was assessed through a photograph-based severity scoring scale. Safety was assessed by collecting data regarding significant side effects. RESULTS Starting in 2010, 30 patients (15 female) were referred for propranolol treatment of IH, at a median age of six months (1-63 months). The mean target propranolol dose was 2.8 mg/kg/day, with a mean duration of therapy of 12 months. All patients experienced significant reduction of IH size and volume. There were no side effects. CONCLUSIONS In our experience propranolol appears to be a useful and safe treatment option for severe or complicated IH, achieving a rapid and significant reduction in their size. No adverse effects were observed, although until larger clinical trials are completed, potential adverse events should be borne in mind and consultation with local specialists is recommended prior to initiating treatment.

Válvula Aórtica Quadricúspide. Casuística de 10 Anos e Revisão da Literatura

INTRODUCTION Quadricuspid aortic valve is a rare malformation, with an estimated incidence of 0.003 to 0.043% of all congenital heart disease. It usually appears as an isolated congenital anomaly, but may also be associated with other malformations, the most common being coronary artery anomalies. Current technology enables noninvasive diagnosis in most cases. This entitys natural history is progression to valve regurgitation, which is rare before adulthood. OBJECTIVE Case review of quadricuspid aortic valve patients diagnosed in the last 10 years in a tertiary pediatric cardiology center. METHODS Retrospective chart review of patients diagnosed with quadricuspid aortic valve between January 2000 and December 2009. RESULTS Over the past 10 years, four cases of quadricuspid aortic valve were diagnosed in children aged between 6 months and 8 years, two male. In three cases, the four leaflets were of similar size, which is the most common finding. Two of the valves functioned normally and two had minimal regurgitation. All patients had associated cardiac malformations (one atrial and two ventricular septal defects, one supravalvular aortic stenosis and one quadricuspid pulmonary valve). One patient was also diagnosed with Williams syndrome. During a median follow-up of 2 years (0-9), all patients remained asymptomatic and none required medical or surgical treatment of the aortic valve. CONCLUSION Diagnosis of quadricuspid aortic valve is rare, especially in children, since most patients are asymptomatic and have normally functioning valves. In this study, half the patients had minimal aortic regurgitation. Contrary to what is described in the literature, all patients had concomitant cardiac malformations. We provide the first description of this entitys association with Williams syndrome. Clinical follow-up should be maintained in these patients in order to promptly detect the onset or worsening of functional alterations and to enable appropriate therapeutic intervention.

The hybrid approach for palliation of hypoplastic left heart syndrome: Intermediate results of a single-center experience

INTRODUCTION Hypoplastic left heart syndrome (HLHS) is a major cause of cardiac death during the first week of life. The hybrid approach is a reliable, reproducible treatment option for patients with HLHS. Herein we report our results using this approach, focusing on its efficacy, safety and late outcome. METHODS We reviewed prospectively collected data on patients treated for HLHS using a hybrid approach between July 2007 and September 2014. RESULTS Nine patients had a stage 1 hybrid procedure, with seven undergoing a comprehensive stage 2 procedure. One patient completed the Fontan procedure. Five patients underwent balloon atrial septostomy after the hybrid procedure; in three patients, a stent was placed across the atrial septum. There were three deaths: two early after the hybrid procedure and one early after stage two palliation. Overall survival was 66%. CONCLUSIONS In our single-center series, the hybrid approach for HLHS yields intermediate results comparable to those of the Norwood strategy. The existence of dedicated teams for the diagnosis and management of these patients, preferably in high-volume centers, is of major importance in this condition.

Rituximab in pemphigus foliaceous with autoantibodies against both Desmoglein 1 and Desmoglein 3

ejd.2011.1288 Auteur(s) : Rodrigo CARVALHO1 rodrigoaraujocarvalho@gmail.com, Paula MAIO1, Daniela CUNHA1, Isabel FREITAS1, Ana AFONSO2, Jorge CARDOSO1 1 Department of Dermatology and Venereology, Curry Cabral Hospital, Lisbon, Portugal 2 Department of Pathology, Curry Cabral Hospital, Lisbon, Portugal Reprints.: R. CARVALHO Pemphigus foliaceous (PF) is generally a benign autoimmune blistering disease, but in some patients lesions are severe with serious implications in life quality. We report a [...]

NECROSE GORDA DO RECÉM-NASCIDO

A Necrose Gorda do Recem-nascido (NGRN) e uma paniculite rara, autolimitada, que surge em recemnascidos de termo, nas primeiras semanas de vida. A sua patogenese permanece desconhecida mas parece estar relacionada com situacoes de stress, que levam a hipoperfusao e cristalizacao do tecido adiposo, causando necrose e inflamacao granulomatosa. O caso clinico descrito representa uma NGRN apenas com envolvimento cutâneo. O provavel factor precipitante associado foi o parto por cesariana.

Vascular Malformation and Common Keratinocytic Nevus of the Soft Type: Phacomatosis Pigmentovascularis Revisited

Phacomatosis pigmentovascularis is a rare syndrome characterized by the coexistence of a pigmented nevus and a cutaneous vascular malformation. We report a 5-year-old boy with all the typical findings of phacomatosis pigmentovascularis type Ia. Although its existence according to the traditional classification has been questioned, this case represents a very rare association of a capillary vascular malformation and a common keratinocytic nevus of the soft type.

PIGMENTAÇÃO MACULAR ERUPTIVA IDIOPÁTICA NA CRIANÇA

Idiopathic eruptive macular pigmentation is a rare disorder, characterized by the appearance of multiple brownish macules, asymptomatic, most frequently involving the neck, trunk and proximal region of the members. The incidence appears to be greater during childhood and adolescence. It is a distinct entity from erythema dyschromi- cum perstans. Usually it has spontaneous remission after several months to years without additional treatment or clinical investigation needed. KEYWORDS – Child; Hyperpigmentation; Pigmentation Disorders; Remission, Spontaneous.