Mystery case: Cowden syndrome presenting with partial epilepsy related to focal cortical dysplasia.

[cowden syndrome]

A 55 -year -old man presented with seizures characterized by "tightening " of the right side and variable loss of awareness . EEG showed focal epileptogenic abnormalities over left and midline central regions . MRI showed left frontal focal cortical dysplasia (figure 1 ). He had multiple skin lesions (figure 2 ) and colonoscopy revealed gastrointestinal mucosal ganglioneuromas . Genetic testing of PTEN gene confirmed a diagnosis of Cowden syndrome (CS ).

Diseases
Validation

Diseases presenting "skin lesions" symptom

child syndrome

cowden syndrome

cutaneous mastocytosis

cystinuria

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

familial mediterranean fever

focal myositis

gm1 gangliosidosis

heparin-induced thrombocytopenia

hirschsprung disease

junctional epidermolysis bullosa

lamellar ichthyosis

liposarcoma

lymphangioleiomyomatosis

malignant atrophic papulosis

oligodontia

omenn syndrome

papillon-lefèvre syndrome

primary effusion lymphoma

proteus syndrome

severe combined immunodeficiency

sneddon syndrome

waldenström macroglobulinemia

werner syndrome

wiskott-aldrich syndrome

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