RESUMO
BACKGROUND: X-linked recessive ichthyosis (XLI) is a relatively common type of ichthyosis caused by a deficiency in the steroid sulfatase (STS) enzyme. It is the only type of ichthyosis that can be both syndromic and nonsyndromic. Typical clinical features include dark-brown scale of variable size favouring the extensor surfaces of the extremities. OBJECTIVES: To characterize clinically nonsyndromic XLI, with a particular focus on extracutaneous manifestations. METHODS: This was a multicentre retrospective review of clinical findings from a case series of patients with a clinical and genetic diagnosis of XLI. RESULTS: We identified 30 patients with XLI belonging to 25 different families carrying a deletion in the STS locus. All patients had dark scales of variable size on the extensor surfaces of the extremities. Lack of flexural involvement and pruritus were common but inconsistent findings, whereas palmoplantar hyperlinearity was absent in all but one patient. A history of orchiopexy was present in 10% and thus was more common than expected vs. the general population (3%). Neurological disorders including epilepsy (13%) and attention deficit hyperactivity disorder (ADHD; 30%) were over-represented in patients with XLI. CONCLUSIONS: This was a retrospective study with a limited number of patients. In the absence of confirmatory genetic testing and family history of the disease, dark-brown scale of the extensor surfaces and the absence of palmoplantar hyperlinearity appear to be the most reliable clinical findings supporting a diagnosis of XLI. Dermatologists should be aware of the high prevalence of ADHD and epilepsy in patients with nonsyndromic XLI.
Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Epilepsia/epidemiologia , Ictiose Ligada ao Cromossomo X/complicações , Adolescente , Adulto , Idoso , Transtorno do Deficit de Atenção com Hiperatividade/genética , Criança , Pré-Escolar , Epilepsia/genética , Deleção de Genes , Testes Genéticos , Humanos , Ictiose Ligada ao Cromossomo X/diagnóstico , Ictiose Ligada ao Cromossomo X/genética , Ictiose Ligada ao Cromossomo X/patologia , Lactente , Recém-Nascido , Masculino , Anamnese , Pessoa de Meia-Idade , Prevalência , Estudos Retrospectivos , Pele/patologia , Espanha , Esteril-Sulfatase/genética , Adulto JovemRESUMO
Cutaneous graft-versus-host disease (GVHD) is a frequent complication of allogeneic bone marrow transplant and haematopoietic cell transplantation, but it is rarely presented as a Wolf's isotopic response. We report a patient who developed chronic lichenoid GVHD following the dermatomes previously affected by varicella zoster virus (VZV) infection. Nineteen months later, the same patient suffered from reactivation of GVHD at the injection site of an influenza vaccination. We review the literature concerning GVHD appearing after VZV infection and discuss the possible implications of this case and the pathogenic hypotheses.
Assuntos
Doença Enxerto-Hospedeiro/etiologia , Herpes Zoster/complicações , Vacinas contra Influenza/efeitos adversos , Erupções Liquenoides/etiologia , Transplante de Medula Óssea/efeitos adversos , Doença Crônica , Feminino , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Humanos , Pessoa de Meia-Idade , Síndromes Mielodisplásicas/terapia , Recidiva , Transplante HomólogoRESUMO
BACKGROUND: Core stability training is popular in the management of people with multiple sclerosis (MS); however, scientific evidence to support its effectiveness is scarce. OBJECTIVE: To explore the effectiveness of core stability training on balance and mobility. METHOD: A multi-centre series of eight single case studies was undertaken. Eight ambulant individuals with stable MS participated in 16 face-to-face core stability training sessions, delivered by a neurophysiotherapist, plus a daily home exercise programme. A range of outcomes were measured: 10-m timed walk, 12-item MS walking scale, timed get up and go, functional reach tests, timed single leg stance, visual analogue scales of two activities, and the Activities-specific Balance Confidence Scale. RESULTS: Visual analysis of trend, level and slope demonstrated improvement in five subjects (62%) in seven measures. This was confirmed by the two standard deviation band method of analysis for six measures. Analysis of group data (repeated measures within subjects analysis of variance) indicated significant improvement between baseline and intervention phases for timed walk (p = 0.019), MSWS-12 Scale (p = 0.041), forward (p = 0.015) and lateral reach (p = 0.012). In general, no further improvements were made following withdrawal of the intervention. CONCLUSIONS: This study provides preliminary evidence of the effectiveness of an 8-week core stability training programme in improving balance and mobility in ambulant people with MS. Variations in response to intervention are evident. Assessor-blinded randomized controlled studies are required to confirm these findings and determine patient characteristics which identify those who benefit most from this intervention.