Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
Search in posts
Search in pages
Filter by Categories
15th National Conference of the IAOMFP, Chennai, 2006
Abstract
Abstracts from current literature
Acne in India: Guidelines for management - IAA Consensus Document
Addendum
Announcement
Art & Psychiatry
Article
Articles
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
Commentary
Conference Oration
Conference Summary
Continuing Medical Education
Correspondence
Corrigendum
Cosmetic Dermatology
Cosmetology
Current Best Evidence
Current Issue
Current View
Derma Quest
Dermato Surgery
Dermatopathology
Dermatosurgery Specials
Dispensing Pearl
Do you know?
Drug Dialogues
e-IJDVL
Editor Speaks
Editorial
Editorial Remarks
Editorial Report
Editorial Report - 2007
Editorial report for 2004-2005
Errata
Erratum
Focus
Fourth All India Conference Programme
From Our Book Shelf
From the Desk of Chief Editor
General
Get Set for Net
Get set for the net
Guest Article
Guest Editorial
History
How I Manage?
IADVL Announcement
IADVL Announcements
IJDVL Awards
IJDVL AWARDS 2015
IJDVL Awards 2018
IJDVL Awards 2019
IJDVL Awards 2020
IJDVL International Awards 2018
Images in Clinical Practice
Images in Dermatology
In Memorium
Inaugural Address
Index
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 - LETTERS IN RESPONSE TO PUBLISHED ARTICLES
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
Media and news
Medicolegal Window
Messages
Miscellaneous Letter
Musings
Net Case
Net case report
Net Image
Net Images
Net Letter
Net Quiz
Net Study
New Preparations
News
News & Views
Obituary
Observation Letter
Observation Letters
Oration
Original Article
ORIGINAL CONTRIBUTION
Original Contributions
Pattern of Skin Diseases
Pearls
Pediatric Dermatology
Pediatric Rounds
Perspective
Presedential Address
Presidential Address
Presidents Remarks
Quiz
Recommendations
Regret
Report
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
Retraction
Review
Review Article
Review Articles
Reviewers 2022
Revision Corner
Self Assessment Programme
SEMINAR
Seminar: Chronic Arsenicosis in India
Seminar: HIV Infection
Short Communication
Short Communications
Short Report
Snippets
Special Article
Specialty Interface
Studies
Study Letter
Study Letters
Supplement-Photoprotection
Supplement-Psoriasis
Symposium - Contact Dermatitis
Symposium - Lasers
Symposium - Pediatric Dermatoses
Symposium - Psoriasis
Symposium - Vesicobullous Disorders
SYMPOSIUM - VITILIGO
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
Tables
Technology
Therapeutic Guideline-IADVL
Therapeutic Guidelines
Therapeutic Guidelines - IADVL
Therapeutics
Therapy
Therapy Letter
Therapy Letters
View Point
Viewpoint
What’s new in Dermatology
Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
Search in posts
Search in pages
Filter by Categories
15th National Conference of the IAOMFP, Chennai, 2006
Abstract
Abstracts from current literature
Acne in India: Guidelines for management - IAA Consensus Document
Addendum
Announcement
Art & Psychiatry
Article
Articles
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
Commentary
Conference Oration
Conference Summary
Continuing Medical Education
Correspondence
Corrigendum
Cosmetic Dermatology
Cosmetology
Current Best Evidence
Current Issue
Current View
Derma Quest
Dermato Surgery
Dermatopathology
Dermatosurgery Specials
Dispensing Pearl
Do you know?
Drug Dialogues
e-IJDVL
Editor Speaks
Editorial
Editorial Remarks
Editorial Report
Editorial Report - 2007
Editorial report for 2004-2005
Errata
Erratum
Focus
Fourth All India Conference Programme
From Our Book Shelf
From the Desk of Chief Editor
General
Get Set for Net
Get set for the net
Guest Article
Guest Editorial
History
How I Manage?
IADVL Announcement
IADVL Announcements
IJDVL Awards
IJDVL AWARDS 2015
IJDVL Awards 2018
IJDVL Awards 2019
IJDVL Awards 2020
IJDVL International Awards 2018
Images in Clinical Practice
Images in Dermatology
In Memorium
Inaugural Address
Index
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 - LETTERS IN RESPONSE TO PUBLISHED ARTICLES
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
Media and news
Medicolegal Window
Messages
Miscellaneous Letter
Musings
Net Case
Net case report
Net Image
Net Images
Net Letter
Net Quiz
Net Study
New Preparations
News
News & Views
Obituary
Observation Letter
Observation Letters
Oration
Original Article
ORIGINAL CONTRIBUTION
Original Contributions
Pattern of Skin Diseases
Pearls
Pediatric Dermatology
Pediatric Rounds
Perspective
Presedential Address
Presidential Address
Presidents Remarks
Quiz
Recommendations
Regret
Report
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
Retraction
Review
Review Article
Review Articles
Reviewers 2022
Revision Corner
Self Assessment Programme
SEMINAR
Seminar: Chronic Arsenicosis in India
Seminar: HIV Infection
Short Communication
Short Communications
Short Report
Snippets
Special Article
Specialty Interface
Studies
Study Letter
Study Letters
Supplement-Photoprotection
Supplement-Psoriasis
Symposium - Contact Dermatitis
Symposium - Lasers
Symposium - Pediatric Dermatoses
Symposium - Psoriasis
Symposium - Vesicobullous Disorders
SYMPOSIUM - VITILIGO
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
Tables
Technology
Therapeutic Guideline-IADVL
Therapeutic Guidelines
Therapeutic Guidelines - IADVL
Therapeutics
Therapy
Therapy Letter
Therapy Letters
View Point
Viewpoint
What’s new in Dermatology
View/Download PDF

Translate this page into:

Net Letter
87 (
4
); 601-601
doi:
10.25259/IJDVL_603_20

Systemic sclerosis and hereditary motor and sensory neuropathy: An uncommon combination

Kottai Medical Centre, Pattukkottai, Tamil Nadu, India
DermaClinix- Hair Transplant and Dermatology Clinic, Chennai, Tamil Nadu, India
Believers Church Medical College, Thiruvalla, Kerala, India

Corresponding author: Dr. Roshni Kakitha, Consultant Dermatologist, DermaClinix - Hair Transplant and Dermatology clinic, Chennai Tamil Nadu, India. k.roshni55@gmail.com

Licence
This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-Share Alike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.

How to cite this article: Prabakaran P, Kakitha R, Sreedevi A. Systemic sclerosis and hereditary motor and sensory neuropathy: An uncommon combination. Indian J Dermatol Venereol Leprol 2021;87:601.

Sir,

Systemic sclerosis is one of the rare autoimmune connective tissue diseases with an incidence of 1/100,000.1 Hereditary motor and sensory neuropathy is the most common inherited neuromuscular disease with an incidence of 10/100,000.2 We report a patient with both systemic sclerosis and hereditary motor and sensory neuropathy which is as rare as 1/1,000,000 in the general population.

A 28-year-old male, harvesting machine driver, presented with tightening of the skin of limbs, face and claw hands. He gave a 2- to 3-year history of bluish discoloration of hands and feet on exposure to cold. He also had difficulty walking due to bilateral foot drop since childhood. There was a similar history of foot drop in his mother and paternal grandfather.

Cutaneous examination showed stretched, shiny, tight skin over the face [Figure 1], trunk and upper and lower limbs. Follicular hyperpigmented and perifollicular hypopigmented macules (salt and pepper pigmentation) were seen over the arms and front of the chest [Figure 2]. He had microstomia pinched nose [Figure 1], superciliary madarosis, symmetrical immobile total claw hands and wasting of the forearm muscles. Bilateral foot drop, sensory loss (callosities seen on the soles [Figure 3]), pes cavus and claw toes along with a high stepping gait were noted.

Stretched, shiny and tight skin of the face
Figure 1:
Stretched, shiny and tight skin of the face
Salt and pepper pigmentation in front of the chest
Figure 2:
Salt and pepper pigmentation in front of the chest
Loss of sensation over the sole seen as callosities
Figure 3:
Loss of sensation over the sole seen as callosities

Dermoscopy showed a periungual pallor and a few thrombosed capillaries suggestive of avascularity. Distal hands and feet were cold with a bluish tinge. The modified Rodnan skin score was 32. Contrast-enhanced computed tomography of thorax was suggestive of early interstitial lung disease. Barium swallow showed Grade-1 esophageal reflux. The antinuclear antibody and anti-Scl 70 antibody were positive. Electrocardiogram and echocardiogram were normal. Nerve conduction study showed absent compound muscle action potential from both median and ulnar nerves and all the nerves of lower limbs with near-normal sensory nerve action potentials, suggestive of axonal injury to the affected nerves, that is, bilateral sensorimotor axonal polyneuropathy.

In view of superciliary madarosis, thickened peripheral nerves, claw hand and foot drop, a slit-skin smear was done to rule out Hansen’s disease.

Sural nerve biopsy showed the normal structure of the nerve, without any inflammatory cells histopathologically. Skin biopsy was suggestive of scleroderma.

A diagnosis of systemic sclerosis with hereditary motor and sensory neuropathy (most probably Charcot-Marie-Tooth disease type 2) was hence made.

The patient was treated with cyclophosphamide pulse therapy, nifedipine for the frequent Raynaud’s attacks, chest physiotherapy, occupational therapy for hands and feet, music and yoga therapy for his mental stress.

Systemic sclerosis is a chronic, multisystem connective tissue disease characterized by microangiopathy, immune activation and fibrosis of the skin and internal organs.3 Systemic sclerosis can happen as a result of occupational exposure to silica, polyvinyl chloride trichloroethylene, organic solvents, pesticides, hair dyes and industrial fumes.3

In our patient, it might have been triggered by exposure to silica dust, him being a harvesting machine driver.

Skin sclerosis is a primary manifestation.3 Raynaud’s phenomenon is seen in 75% of the patients and ischemic digital ulcers by 50%.3 Salt and pepper pigmentation is found to be a presenting feature in many in India.4 Calcinosis cutis, leg ulcers, telangiectasia and sexual dysfunction are the other concerns.3

Nail fold dermoscopy progresses from isolated dilated loops to tortuous loops to total loss and avascularity in late stages.5,6 Various autoimmune antibodies such as anti-serum anti-topoisomerase, anti-RNA polymerase III antibody and anti-centromere antibodies are associated.7

Charcot-Marie-Tooth disease is the most common hereditary motor and sensory neuropathy. Symptoms usually begin in early childhood but it can start at any age.8 The initial symptom is foot drop and hammer toes. Wasting of muscles of the lower legs may give a “stork leg” or “inverted champagne bottle” appearance.8 Weakness and sensory loss in the hands and forearms occur in many.8,9

Early- and late-onset forms occur with “on and off” painful spasmodic muscular contractions that can be disabling when the disease activates.9 High-arched or flat-arched feet are classic associations of the disorder.9 Overuse of an affected limb can activate symptoms including numbness, spasm and painful cramping.8,9

Electromyogram and nerve conduction study are used to know the extent of muscle and nerve damage.8 Nerve conduction study is suggestive of whether it is demyelination or axonal degeneration.1 Genetic studies are useful in detecting the mutant genes as around 90 genes are involved in the process of the disease.9

The coexistence of these two rare diseases in one person makes it rarer still and worth reporting. It could be a coincidence or an unexplained common mechanism could have triggered both the conditions.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

References

  1. , , , , , , et al. Clinical and autoimmune profile of scleroderma patients from Western India. Int J Rheumatol. 2014;2014:983781.
    [CrossRef] [PubMed] [Google Scholar]
  2. , . Central and peripheral demyelination. J Neurosci Rural Pract. 2014;5:84-6.
    [CrossRef] [PubMed] [Google Scholar]
  3. , , . Systemic sclerosis: Current concepts in pathogenesis and therapeutic aspects of dermatological manifestations. Indian J Dermatol. 2013;58:255-68.
    [CrossRef] [PubMed] [Google Scholar]
  4. , , , , . Salt-and-pepper Appearance: A cutaneous clue for the diagnosis of systemic sclerosis. Indian J Dermatol. 2012;57:412-3.
    [CrossRef] [PubMed] [Google Scholar]
  5. , , , , , , et al. A portable dermatoscope for easy, rapid examination of periungual nailfold capillary changes in patients with systemic sclerosis. Rheumatol Int. 2011;31:1601-6.
    [CrossRef] [PubMed] [Google Scholar]
  6. , , , , . Scleroderma pattern of nailfold capillary changes as predictive value for the development of a connective tissue disease: A follow-up study of 3,029 patients with primary Raynaud's phenomenon. Rheumatol Int. 2012;32:3039-45.
    [CrossRef] [PubMed] [Google Scholar]
  7. , , , . Autoantibody profile in systemic sclerosis. Acta Med Iran. 2010;48:12-20.
    [Google Scholar]
  8. , , . Diagnosis and Management of Peripheral Nerve Disorders oxford: Oxford University Press; . p. :718.
    [Google Scholar]
  9. , , . Inherited neuropathies: An update. J Neurol. 2013;260:2684-90.
    [CrossRef] [PubMed] [Google Scholar]

Fulltext Views
3,308

PDF downloads
1,333
View/Download PDF
Download Citations
BibTeX
RIS
Show Sections