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 "neuropathy" symptom

adrenomyeloneuropathy

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

fabry disease

focal myositis

gm1 gangliosidosis

hirschsprung disease

homocystinuria without methylmalonic aciduria

inclusion body myositis

krabbe disease

malignant atrophic papulosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

neuralgic amyotrophy

oculocutaneous albinism

pendred syndrome

phenylketonuria

pyomyositis

pyruvate dehydrogenase deficiency

sneddon syndrome

thoracic outlet syndrome

triple a syndrome

von hippel-lindau disease

waldenström macroglobulinemia

wolf-hirschhorn syndrome

This symptom has already been validated