Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
Filter by Categories
15th National Conference of the IAOMFP, Chennai, 2006
Abstracts from current literature
Acne in India: Guidelines for management - IAA Consensus Document
Art & Psychiatry
Association Activities
Association Notes
Award Article
Book Review
Brief Report
Case Analysis
Case Letter
Case Letters
Case Notes
Case Report
Case Reports
Clinical and Laboratory Investigations
Clinical Article
Clinical Studies
Clinical Study
Conference Oration
Conference Summary
Continuing Medical Education
Cosmetic Dermatology
Current Best Evidence
Current Issue
Current View
Derma Quest
Dermato Surgery
Dermatosurgery Specials
Dispensing Pearl
Do you know?
Drug Dialogues
Editor Speaks
Editorial Remarks
Editorial Report
Editorial Report - 2007
Editorial report for 2004-2005
Fourth All India Conference Programme
From Our Book Shelf
From the Desk of Chief Editor
Get Set for Net
Get set for the net
Guest Article
Guest Editorial
How I Manage?
IADVL Announcement
IADVL Announcements
IJDVL Awards
IJDVL Awards 2018
IJDVL Awards 2019
IJDVL Awards 2020
IJDVL International Awards 2018
Images in Clinical Practice
In Memorium
Inaugural Address
Knowledge From World Contemporaries
Leprosy Section
Letter in Response to Previous Publication
Letter to Editor
Letter to the Editor
Letter to the Editor - Case Letter
Letter to the Editor - Letter in Response to Published Article
Letter to the Editor - Observation Letter
Letter to the Editor - Study Letter
Letter to the Editor - Therapy Letter
Letter to the Editor: Articles in Response to Previously Published Articles
Letters in Response to Previous Publication
Letters to the Editor
Letters to the Editor - Letter in Response to Previously Published Articles
Letters to the Editor: Case Letters
Letters to the Editor: Letters in Response to Previously Published Articles
Medicolegal Window
Miscellaneous Letter
Net Case
Net case report
Net Image
Net Letter
Net Quiz
Net Study
New Preparations
News & Views
Observation Letter
Observation Letters
Original Article
Original Contributions
Pattern of Skin Diseases
Pediatric Dermatology
Pediatric Rounds
Presedential Address
Presidential Address
Presidents Remarks
Report of chief editor
Report of Hon : Treasurer IADVL
Report of Hon. General Secretary IADVL
Research Methdology
Research Methodology
Resident page
Resident's Page
Resident’s Page
Residents' Corner
Residents' Corner
Residents' Page
Review Article
Review Articles
Reviewers 2022
Revision Corner
Self Assessment Programme
Seminar: Chronic Arsenicosis in India
Seminar: HIV Infection
Short Communication
Short Communications
Short Report
Special Article
Specialty Interface
Study Letter
Study Letters
Symposium - Contact Dermatitis
Symposium - Lasers
Symposium - Pediatric Dermatoses
Symposium - Psoriasis
Symposium - Vesicobullous Disorders
Symposium Aesthetic Surgery
Symposium Dermatopathology
Symposium-Hair Disorders
Symposium-Nails Part I
Symposium-Nails-Part II
Systematic Review and Meta-Analysis
Systematic Reviews and Meta-analyses
Systematic Reviews and Meta-analysis
Therapeutic Guideline-IADVL
Therapeutic Guidelines
Therapeutic Guidelines - IADVL
Therapy Letter
Therapy Letters
View Point
What’s new in Dermatology
View/Download PDF

Translate this page into:

Letter To Editor
doi: 10.4103/0378-6323.45129
PMID: 19172010

Lafora's disease diagnosed on axillary skin biopsy in 3 patients

PR Malur, RS Davanageri, HB Bannur, VV Suranagi
 Department of Pathology, JNMC, Belgaum, Karnataka, India

Correspondence Address:
P R Malur
Department of Pathology, JNMC, Belgaum, Karnataka
How to cite this article:
Malur P R, Davanageri R S, Bannur H B, Suranagi V V. Lafora's disease diagnosed on axillary skin biopsy in 3 patients. Indian J Dermatol Venereol Leprol 2008;74:672-673
Copyright: (C)2008 Indian Journal of Dermatology, Venereology, and Leprology


Lafora′s disease is a rare neurometabolic disorder resulting in progressive decline in mental function. It is one of the five major conditions which produce progressive myoclonus epilepsy. [1],[2] It is characterized by pathognomonic endoplasmic reticulum-associated polyglucosan accumulations. [3] The syndrome of classic Lafora′s disease was first described by Unverricht in 1891. [2]

The disease usually commences between the ages of 11 and 18 years, with equal incidence in both the sexes. [1] The most common presenting feature is a single seizure followed by progressive myoclonus, generalized seizures, intellectual decline, and severe motor and coordination impairments. [4] Death usually occurs within 10 years, most commonly due to pneumonia or complications related to degeneration of the nervous system. [1] The diagnosis of Lafora′s disease is based on demonstration of intracytoplasmic inclusions called Lafora bodies. [2],[5] We have come across 3 cases of Lafora′s disease in which Lafora bodies were demonstrated in the axillary skin biopsy, which is the best diagnostic procedure according to our experience.

Three male patients in their second decade (16, 17, and 16 years) presented with a history of generalized convulsions, which started in the 10 th , 12 th , and 14 th years respectively. The clinical features were almost similar in all the 3 cases. There was progressive development of weakness, incoordinated movements, and decrease in school performance. Impairment of recent and remote memory, registration, recall, attentiveness, and intelligence with progressive mental deterioration and total disability was noted. There was no nocturnal myoclonus. Upon reevaluation, similar family history was obtained in that the elder sisters in the first 2 patients, had died of a similar illness. The third patient did not give history of any affected sibling.

On general physical examination, in the first case the boy was stuporous, dehydrated, and had bed sores. The other 2 cases did not reveal any significant abnormalities. Systemic examination was normal. No focal neurologic deficits were found. Reflexes were normal.

On investigations, hematological parameters, biochemical parameters, and urine analysis were all within normal limits. Examination of cerebrospinal fluid was normal. X-ray of chest and skull showed no abnormalities. Electroencephalogram (EEG) showed bilateral diffuse low voltage, delta waves slowing with frequent generalized, multifocal spike discharges. Histopathological examination of the hematoxylin and eosin-stained sections of the skin biopsy taken from the axillary region demonstrated no discernible histopathological abnormalities. Periodic acid Schiff stain (PAS), with diastase, revealed presence of Lafora bodies which were round-to-oval intracytoplasmic PAS-positive, diastase-resistant inclusions within the acinar cells of apocrine [Figure - 1] and eccrine glands.

The Lafora body inclusions in Lafora′s disease are found in neurons, liver, skin, bone, and muscle. In 1981, Carpenter and Karpati proposed skin biopsy as a convenient method of diagnosing Lafora′s disease by identifying Lafora bodies within eccrine ducts. Other authors have confirmed these findings. Lafora bodies have been noted in apocrine duct cells, dermal peripheral nerve bundles, and peripheral nerve inclusions in muscle biopsy specimens. [2] They are seen as concentric target-like laminations, 1 to 30 microns in diameter. They are PAS positive, diastase resistant, Alcian blue positive, and variably metachromatic with methyl violet or toluidine blue. [6] PAS staining of the inclusions has been seen with both paraffin and cryostat sections, rapid visualization being with cryostat sections. [2]

Skin biopsy is a convenient and the least invasive method of establishing the diagnosis of Lafora′s disease. Despite the absence of cutaneous clinical findings, typical inclusions are present in eccrine duct cells and peripheral nerve of skin biopsies. [2]

Andrade et al. favored skin biopsy outside the axilla for diagnosis of Lafora′s disease so as to eliminate the false positivity due to apocrine contents, as the apocrine glands are absent outside the axillary and genital regions and the eccrine duct cell Lafora bodies are unmistakable. [7] Doaei et al. found axillary skin biopsy to be more reliable to make definitive diagnosis of Lafora body disease. They found abundance of Lafora bodies in the epithelial and myoepithelial cells of ducts of sweat, apocrine, and eccrine glands from the biopsy at axillary site. [8] Despite advances in the genetics of Lafora′s disease, skin biopsy remains a primary diagnostic modality. [7]

Skin biopsy taken from the axillary fold in all 3 of our cases showed PAS-positive intracytoplasmic inclusions in the acinar cells of both eccrine and apocrine glands. Though the Lafora body inclusions can be identified in the cells of various tissues of the body, skin biopsy is a more convenient, cost-effective, easier, and safer method. Axillary skin biopsy is diagnostic, for it has more number of apocrine and eccrine glands.

Minassian BA. Lafora′s disease: Towards a clinical, pathological and molecular synthesis. Paediatr Neurol 2001;25:21-9.
[Google Scholar]
Newton GA, Sanchez RL, Swedo J, Smith EB. Lafora′s disease: The role of skin biopsy. Arch Dermatol 1987;123:1667-9.
[Google Scholar]
Chan EM, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, et al . Current literature: A second gene for Lafora Disease "Mutations in NHLRC1(EPM2B) cause progressive myoclonus epilepsy". Nat Genet 2003;35:125-7.
[Google Scholar]
Menkes JH. Metabolic diseases of the nervous system. In: Jonathan WP, editor. Textbook of child Neurology. 5th ed. Baltimore: Williams and Wilkins; 1995. p. 109-11.
[Google Scholar]
Choudhury C, Jain S, Roy S, Maheshwari MC. Lafora′s disease: A case report. Neurol India 1984;32:59-64.
[Google Scholar]
Central nervous system-Basic Neuropathology Question No.24. Available from: Last accessed, 23-05-08 .
[Google Scholar]
Andrane DM, Ackerley CA, Minett TS, Teive HA, Bohlega S, Scherer SW, et al . Skin biopsy in Lafora disease: Genotype- phenotype-correlations and diagnostic pitfalls. Neurology 2003;61:1611-4.
[Google Scholar]
Doaei S, Varjanovi B, Zamurovi D. Myoclonic epilepsy and Lafora body disease: Biopsy diagnosis. Arch Oncol 2001;99:169-70.
[Google Scholar]

Fulltext Views

PDF downloads
Show Sections