42 research outputs found
The ethnic profile of patients with birthmarks reveals interaction of germline and postzygotic genetics
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
Uniparental disomy as a mechanism for CERS3‐mutated autosomal recessive congenital ichthyosis
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
Copy number abnormalities in new or progressive 'neurocutaneous melanosis' confirm it to be primary CNS melanoma
Dermatological signs lead to discovery of mosaic ACTB variants in segmental odonto-maxillary dysplasia
GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of Gα/11 Mosaicism and the Associated Clinical Diagnoses
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
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Inflammatory linear verrucous epidermal nevus should be genotyped to direct treatment and genetic counseling
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