Diffuse intestinal ganglioneuromatosis an uncommon manifestation of Cowden syndrome.

[cowden syndrome]

Diffuse intestinal ganglioneuromatosis is a hamartomatous polyposis characterized by a disseminated , intramural or transmural proliferation of neural elements involving the enteric plexuses . It has been associated with MEN II , neurofibromatosis type 1 and hamartomatous polyposis associated with phosphatase and tensin homolog mutation . We report the case of a female patient with a history of a breast and endometrial tumor who presented in a colonoscopy performed for rectal bleeding diffuse ganglioneuromatosis , which oriented the search for other characteristic findings of Cowden syndrome given the personal history of the patient . The presence of an esophagogastric polyposis was also noted . Cowden syndrome is characterized by skin lesions , but it is rarely diagnosed by these lesions , because they are usually overlooked . Intestinal polyposis is not a major diagnostic criterion but it is very useful for early diagnosis . The combination of colonic polyposis and glucogenic acanthosis should orient the diagnosis to Cowden syndrome .

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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