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CADASIL: Blood test versus skin biopsy?
798 Letters
J AM ACAD DERMATOL MAY 2002
CADASIL: Blood test versus skin biopsy? To the Editor: We read with great interest the articles by Walsh et al1 and Rumbaugh et al2 in the December 2000 issue of the Journal. As the population in the United States ages, more physicians will be called on to help in the evaluation of dementia. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an important consideration because this autosomal dominant disorder may present with migraine headaches, transient or permanent cerebral ischemic attacks, and multi-infarct dementia at a relatively early age.2 Genetic counseling is advisable
Letters 799
J AM ACAD DERMATOL VOLUME 46, NUMBER 5
for family members. An abnormality on chromosome 19Q12 is thought to account for a missense point mutation in the NOTCH 3 gene.3 Histologic examination of a skin biopsy specimen is useful and can establish a diagnosis when osmiophilic inclusions are noted in vascular smooth muscle cells.2 However, dermatologists should be aware that a commercial laboratory test for this genetic abnormality is now available from Athena Labs (Worcester, Mass) and should provide greater specificity and sensitivity than examination of a skin biopsy. Thomas Helm, MDa Klaus F. Helm, MDb Clinical Associate Professor of Dermatology State University of New York at Buffaloa Associate Professor of Dermatology and Pathology Pennsylvania State University Medical Center Hershey, Pennsylvaniab REFERENCES 1. Walsh JS, Perniciaro C, Meschia JF. CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy): diagnostic skin biopsy changes determined by electromicroscopy. J Am Acad Dermatol 2000;43:1125-7. 2. Rumbaugh JA, LaDuca JR, Shany Y, Miller CA. CADASIL: the dermatologic diagnosis of a neurologic disease. Cerebral autosomaldominant arteriopathy with subcortical infarcts and leukoencephalopathy. J Am Acad Dermatol 2000;43:1128-30. 3. Kalimo H, Viitanen M, Amberla K, Juvonen V, Marttila R, Poyhonen M, et al. CADASIL: hereditary disease of arteries causing brain infarcts and dementia. Neuropathol Appl Neurobiol 1999;25:25765. 16/8/120593 doi:10.1067/mjd.2002.120593
J AM ACAD DERMATOL MAY 2002
CADASIL: Blood test versus skin biopsy? To the Editor: We read with great interest the articles by Walsh et al1 and Rumbaugh et al2 in the December 2000 issue of the Journal. As the population in the United States ages, more physicians will be called on to help in the evaluation of dementia. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an important consideration because this autosomal dominant disorder may present with migraine headaches, transient or permanent cerebral ischemic attacks, and multi-infarct dementia at a relatively early age.2 Genetic counseling is advisable
Letters 799
J AM ACAD DERMATOL VOLUME 46, NUMBER 5
for family members. An abnormality on chromosome 19Q12 is thought to account for a missense point mutation in the NOTCH 3 gene.3 Histologic examination of a skin biopsy specimen is useful and can establish a diagnosis when osmiophilic inclusions are noted in vascular smooth muscle cells.2 However, dermatologists should be aware that a commercial laboratory test for this genetic abnormality is now available from Athena Labs (Worcester, Mass) and should provide greater specificity and sensitivity than examination of a skin biopsy. Thomas Helm, MDa Klaus F. Helm, MDb Clinical Associate Professor of Dermatology State University of New York at Buffaloa Associate Professor of Dermatology and Pathology Pennsylvania State University Medical Center Hershey, Pennsylvaniab REFERENCES 1. Walsh JS, Perniciaro C, Meschia JF. CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy): diagnostic skin biopsy changes determined by electromicroscopy. J Am Acad Dermatol 2000;43:1125-7. 2. Rumbaugh JA, LaDuca JR, Shany Y, Miller CA. CADASIL: the dermatologic diagnosis of a neurologic disease. Cerebral autosomaldominant arteriopathy with subcortical infarcts and leukoencephalopathy. J Am Acad Dermatol 2000;43:1128-30. 3. Kalimo H, Viitanen M, Amberla K, Juvonen V, Marttila R, Poyhonen M, et al. CADASIL: hereditary disease of arteries causing brain infarcts and dementia. Neuropathol Appl Neurobiol 1999;25:25765. 16/8/120593 doi:10.1067/mjd.2002.120593