A severe case of GNAO1-related disorder

Keypoints What is known – Clinicians should consider a GNAO1-related disorder in patients with global developmental delay, hypotonia, epilepsy and/or movement disorder. – GNAO1-related disorder has a considerable phenotypic spectrum, in relation to the specific pathogenic variants in the GNAO1 gene. – Affected families should receive reproductive genetic counselling to understand the implications for future […]

Chronic lichenoid pityriasis in an adolescent

Keypoints What is known – Pityriasis lichenoides chronica is a rare cutaneous inflammatory disease with unknown etiology. – Pityriasis lichenoides chronica occurs most frequently in children and adolescents, presenting a chronic, fluctuating clinical course with periods of exacerbation and remission. – The cutaneous lesions are characterized by scaly papules, which may be asymptomatic or cause […]