RESUMEN
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.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Epilepsia/epidemiología , Ictiosis Ligada al Cromosoma X/complicaciones , Adolescente , Adulto , Anciano , Trastorno por Déficit de Atención con Hiperactividad/genética , Niño , Preescolar , Epilepsia/genética , Eliminación de Gen , Pruebas Genéticas , Humanos , Ictiosis Ligada al Cromosoma X/diagnóstico , Ictiosis Ligada al Cromosoma X/genética , Ictiosis Ligada al Cromosoma X/patología , Lactante , Recién Nacido , Masculino , Anamnesis , Persona de Mediana Edad , Prevalencia , Estudios Retrospectivos , Piel/patología , España , Esteril-Sulfatasa/genética , Adulto JovenRESUMEN
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.