Ectodermal dysplasia‐skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis

Anhidrotic Ectodermal Dysplasia – Report of Two Cases

Here we report two cases of anhidrotic ectodermal dysplasia in a family presented to us with intermittent fever, developmental delay, frontal bossing, hypohydrosis, sparse hair and oligodontia. Ectodermal dysplasias are a large hereditary group of disorders which are usually manifested as X-linked recessive hypohidrotic ectodermal dysplasia (HED) and has a full expression in males, whereas fema...

Netherton syndrome: report of two cases

Netherton syndrome is a rare autosomal recessive condition with variable expression. It comprises an ichthyosiform dermatitis and erythroderma of variable intensity associated with hair abnormalities and features of atopy. The pathognomic (required for diagnosis) feature is trichorrhexis invaginata identified by microscopic examination of hair shaft. Ichthyosis linearis circumflexa is ano...

Gemistocytic Glioblastomas: Review of Two Cases

  We report two cases of de novo Gemistocytic glioblastomas. In case one, a 35 year male presented with features of raised intracranial pressure and rapid neurological deterioration. In case 2; a 73 year old male presented with rapid neurological deterioration and focal neurological deficits. In both cases imaging findings were suggestive of high grade malignancy involving the brain. This was ...

A plakophilin-1 gene mutation in an egyptian family with ectodermal dysplasia-skin fragility syndrome.

Ectodermal dysplasia-skin fragility syndrome (ED-SFS) is a rare genodermatosis caused by mutations in the PKP1 gene, encoding the desmosomal plaque protein plakophilin-1. Since its initial description in 1997, few individuals with this disorder have been reported to date. Here, we present the first Egyptian cases of ED-SFS, carrying a novel homozygous mutation in the PKP1 gene. Direct sequencin...

HYPERPARATHYROIDISM AND PREGNANCY A REVIEW OF TWO CASES