Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL).

[cadasil]

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephelopathy is an autosomal dominant disease affecting small vessels and often resulting in subcortical infarcts . A skin biopsy may facilitate its diagnosis as the cutaneous surface is much easier to sample than the central nervous system 's tissue . Unfortunately , there is no effective treatment available today .

Diseases
Validation

Diseases presenting "skin biopsy" symptom

adrenomyeloneuropathy

cadasil

cutaneous mastocytosis

dentinogenesis imperfecta

dracunculiasis

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

fabry disease

harlequin ichthyosis

inclusion body myositis

junctional epidermolysis bullosa

kindler syndrome

lamellar ichthyosis

malignant atrophic papulosis

monosomy 21

oligodontia

primary effusion lymphoma

primary hyperoxaluria type 1

pyruvate dehydrogenase deficiency

sneddon syndrome

waldenström macroglobulinemia

x-linked adrenoleukodystrophy

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