ABSTRACT
BACKGROUND: Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is associated with multifocal small CMs and a high risk for high-flow lesions. It is an autosomal dominant disorder, caused by RASA1 gene mutations. Recently, two novel clinical features have been identified: numerous small pale halos with central punctate red spots, and naevus anemicus. OBJECTIVES: To identify the prevalence of the new clinical manifestations in our patients with CM-AVM. The secondary objective was to investigate the presence of other skin lesions. METHODS: We retrospectively searched the picture database of our department for cases with a clinical diagnosis of CM-AVM, based on the identification of multiple cutaneous CMs and a negative history of epistaxis. We prospectively conducted a clinical and dermoscopic skin examination in all of these patients. RESULTS: Seven patients with multiple CMs were found, and only in one case was a cutaneous AVM present. Five patients had red punctate spots surrounded by pale halos on the upper limbs. Two adult patients also showed multiple telangiectasias on the neck and upper trunk. Naevus anemicus was not detected in any patient. A partial or total absence of vellous hair on the surface of CMs was observed in all patients. CONCLUSIONS: Red punctate spots with pale halos or small telangiectasias are frequent findings in CM-AVM syndrome. Hypotrichosis on the CMs suggests that RASA1 gene mutations could be involved in the hair follicle proliferation and cell cycle.
Subject(s)
Arteriovenous Malformations/complications , Capillaries/abnormalities , Hypotrichosis/etiology , Port-Wine Stain/complications , Adolescent , Adult , Arteriovenous Malformations/genetics , Child , Child, Preschool , Female , Humans , Male , Mutation/genetics , Port-Wine Stain/genetics , Prospective Studies , Retrospective Studies , Young Adult , p120 GTPase Activating Protein/geneticsABSTRACT
Psychotropic drugs act by correcting the chemical changes associated with mental disorders and their symptoms. The use of such drugs in medical specialties other than psychiatry is not new and has been growing since a relationship has been demonstrated between mental states and the skin. Besides the so-called psychodermatoses, there are many skin diseases directly related to stress. For this reason, and in view of the reluctance of many patients to consult a psychiatrist, all dermatologists should have a basic understanding of the pharmacology and use of psychotropic drugs.
Subject(s)
Mental Disorders/drug therapy , Psychotropic Drugs/therapeutic use , Skin Diseases/drug therapy , Humans , Mental Disorders/complications , Skin Diseases/psychologyABSTRACT
Los psicofármacos actúan normalizando las modificaciones químicas que se producen en las enfermedades mentales o en sus síntomas. La utilización de los psicofármacos en campos distintos de la Psiquiatría no es nada nuevo. Su utilidad es cada vez más frecuente, pues se ha comprobado la existencia de una relación entre la psique y la piel. Aparte de las llamadas psicodermatosis muchas enfermedades dermatológicas están directamente relacionas con el estrés; por eso, y ante la reticencia de muchos enfermos de ser visitados por el psiquiatra, es importante que el dermatólogo tenga unos conocimientos básicos de la farmacología y el manejo de los psicofármacos (AU)
Psychotropic drugs act by correcting the chemical changes associated with mental disorders and their symptoms. The use of such drugs in medical specialties other than psychiatry is not new and has been growing since a relationship has been demonstrated between mental states and the skin. Besides the so-called psychodermatoses, there are many skin diseases directly related to stress. For this reason, and in view of the reluctance of many patients to consult a psychiatrist, all dermatologists should have a basic understanding of the pharmacology and use of psychotropic drugs (AU)
