Extending the spectrum of AKT1 mosaicism - not just the Proteus syndrome

A five-year-old girl was referred to our department for evaluation of a pigmented birthmark on her right cheek, present unchanged since birth. There was no other past medical history of note and no family history of relevant problems. Cutaneous examination revealed a pigmented keratinocytic epidermal naevus following fine Blaschko's lines on the right cheek and neck (Figure 1), and a solitary café-au-lait macule of 1cm on the lower leg

Epidermal choristoma: a case series and review of the literature

Epidermal choristoma is a rare, congenital lesion in which islands of ectopic skin are found within the oral cavity. They present as pigmented macules or papules on the tongue. Histologic appearances are characteristic and benign. We present three cases review the current literature and recommend observation of the lesion rather than complete excision should be considered as a reasonable management option

GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis

Objective: To describe the findings of histopathology and genotyping studies in affected brain tissue from an individual with phacomatosis pigmentovascularis (PPV). / Methods: A retrospective chart review of a 2-year 10-month-old male with a clinical diagnosis of PPV cesiomarmorata (or type V) was performed. Clinical features, brain imaging and histopathology findings, and genotyping studies in his affected brain tissue are summarized. / Results: The proband had a clinically severe neurologic phenotype characterized by global developmental delay, generalized hypotonia, and recurrent episodes of cardiac asystole in the setting of status epilepticus. A somatic pathogenic variant in GNA11 (c.547C>T, p.Arg183Cys) was detected in his skin tissue but not in blood (previously published). He underwent an urgent left posterior quadrantectomy for his life-threatening seizures. Histopathology of resected brain tissue showed an increase in leptomeningeal melanocytes and abnormal vasculature, and the exact pathogenic variant in GNA11 (c.547C>T, p.Arg183Cys), previously isolated from his skin tissue but not blood, was detected in his resected brain tissue. / Conclusions: The finding of this variant in affected skin and brain tissue of our patient with PPV supports a unifying genetic diagnosis of his neurocutaneous features

Molecular genetic dissection of inflammatory linear verrucous epidermal naevus leads to successful targeted therapy

The article is available via Open Access. Click on the 'Additional link' above to access the full-text.Published version, accepted version (12 month embargo