EPA-0787 – Pervasive developmental disorder with “too much skin”: Case report

Abstract

Introduction:Hyperkeratosis is characterized by abnormal palmoplantar skin thickening. These lesions can extend to other organs and be associated with a multiplicity of pathologies.Objectives:This paper aims to describe the features of psychosocial maladjustment in a patient firstly diagnosed as having hyperkeratosis of unknown etiology.Methods:We describe a 14-year-old boy admitted to our outpatient clinic after verbalizing suicidal thoughts to his endocrinologist.Results:His medical condition had been evolving since he was six, when his palms and specially soles became grossly thickened and painful and he would be found awake at night clawing at his severely scaly and itchy lesions. He was seen by geneticists, dermatologists and plastic surgeons. However, the thickened patches continued to progress over the years, with almost no response to treatment. He was unable to keep up with his friends walking and had to give up on sports. Due to medication he has a reduced stature and low puberty development. On his first appointment he was reported to be unable to manage routine affairs or handle money matters and his scholastic performance was poor. During mental state examination one could assess restricted interests, social and communication defficits, tantrums, self and hetero aggressions and IQ below normal, despite an extraordinary visuo-spatial memory and no suicidal intent. He was medicated with risperidone and structural family therapy was applied, with good response.Conclusions:Helping individuals and families dealing with behavioural problems improves family dynamics and quality of life even in the presence of such incapacitating diseases.