Infantile neurological Degos disease.

[malignant atrophic papulosis]

Degos disease , or malignant atrophic papulosis , is a rare vasculopathy of uncertain aetiology manifesting as a primary dermatological disorder in most cases , but with widespread systemic involvement developing in an undefined proportion of patients . Reported neurological features of Degos disease include ischaemic and haemorrhagic stroke , subdural effusion , seizures , neuropathy , transverse myelitis , and optic atrophy . The description of contrast enhancement of the leptomeninges possibly indicates a defect of blood vessel integrity likely explaining the pleiotropic neurological manifestations . Degos disease is usually considered a disorder of adulthood , although a small number of infantile cases have been described . Here , we report a female who demonstrated a neonatal onset of Degos disease , eventually showing the highly characteristic skin lesions together with ptosis and a generalized weakness as part of her systemic disorder . Subsequent exacerbations led to an inexorable neurodevelopmental and physical decline . CT scan revealed intracranial calcification , a feature described in two previous cases . Our report highlights the need to consider Degos disease in the differential diagnosis of childhood neurological disease with skin involvement .

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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