Generic selectors
Exact matches only
Search in title
Search in content
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 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 International Awards 2018
Images in Clinical Practice
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 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
Messages
Miscellaneous Letter
Musings
Net Case
Net case report
Net Image
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
Revision Corner
Self Assessment Programme
SEMINAR
Seminar: Chronic Arsenicosis in India
Seminar: HIV Infection
Short Communication
Short Communications
Short Report
Special Article
Specialty Interface
Studies
Study Letter
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
Tables
Technology
Therapeutic Guidelines
Therapeutic Guidelines - IADVL
Therapeutics
Therapy
Therapy Letter
View Point
Viewpoint
What’s new in Dermatology
View/Download PDF
Letter to the Editor - Case Letter
2015:81:6;633-635
doi: 10.4103/0378-6323.168354
PMID: 26515853

Easy bruising due to giant platelet (possibly MYH9-related/Sebastian) syndrome

Indrashis Podder1 , Maitrayee Saha2 , Anupam Das1 , Ramesh Chandra Gharami1
1 Department of Dermatology, Medical College and Hospital, Kolkata, India
2 Department Of Pathology, Medical College and Hospital, Kolkata, India

Correspondence Address:
Indrashis Podder
M.D. (Dermatology), Medical College and Hospital, Kolkata Block AD-71, Salt Lake City, Kolkata - 700 064, West Bengal
India
How to cite this article:
Podder I, Saha M, Das A, Gharami RC. Easy bruising due to giant platelet (possibly MYH9-related/Sebastian) syndrome. Indian J Dermatol Venereol Leprol 2015;81:633-635
Copyright: (C)2015 Indian Journal of Dermatology, Venereology, and Leprology

Sir,

The easy bruising syndrome is a condition characterized by recurrent bruising on trivial trauma despite a normal coagulation profile.[1] Some of these cases, collectively called inherited giant platelet disorders, may show large platelets, thrombocytopenia and neutrophilic inclusions on peripheral blood smear examination. Sebastian syndrome is one of the rarer inherited giant platelet disorders. We were unable to find any previous reports from India.

A 5-year-old girl was brought to our dermatology out-patient department at the Medical College and Hospital, Kolkata with a complaint of recurrent bruising with trivial trauma for 7 months. These bruises occurred mostly on her lower limbs and were transient. There was no history of epistaxis or gingival bleeding. No history of physical abuse could be elicited. Her father and sister also had similar complaints. She was born to non-consanguineous parents and her development had been normal. There was no history suggestive of hearing loss, visual impairment (cataract) or nephritis in the patient or in her family. She had never received platelet or red blood cell transfusions.

Cutaneous examination revealed well-defined, ecchymotic patches on the lateral [Figure - 1] and anterior aspects of the mid-thigh, around 4 cm × 3 cm in size. Hair, nails and mucosa were normal. Systemic examination including audiological and ophthalmological evaluation were non-contributory; there was no lymphadenopathy or organomegaly. Hematological investigations were normal except for mild thrombocytopenia (platelet count 90 × 103/cu.mm). The coagulation profile (bleeding time, partial thromboplastin time, prothrombin time) and platelet aggregation studies (turbidometric method) using adrenaline, ristocetin sulphate, collagen, arachidonic acid and adenosine as agonist or aggregating agents were also within normal limits thus ruling out the Von-Willebrand subtypes of diseases. Peripheral blood smear examination showed large platelets (macrothrombocytes) [Figure - 2] and non-specific cytoplasmic inclusions within neutrophils [Figure - 3]. It was evident that these inclusions were not staining artifacts as they were spread unevenly in most of the neutrophils, (and not uniformly as expected with artifacts). They also appeared different from the blue-black toxic granules seen in infection and were not associated with cytoplasmic vacuoles as in the latter. The patient's father and sister also had mild thrombocytopenia with normal coagulation studies and peripheral blood smears. A diagnosis of Sebastian syndrome was considered and the patient advised regular follow-up.

Figure 1: Well-defined ecchymotic patch on the lower leg
Figure 2: Peripheral blood smear showing platelets (arrows), a giant platelet can be seen in the centre (arrow)
Figure 3: Peripheral blood smear showing neutrophilic inclusions

The easy bruising syndrome can be broadly classified into Type I with normal platelets and Type II with platelet abnormalities. There may be anti-platelet antibodies in both, hinting at an autoimmune etiology.[2]

Physical trauma appears to be the most important cause for Type I easy bruising, which was ruled out in our case due to an absence of a history of significant trauma, the presence of petechiae and a positive family history.

Type II easy bruising syndrome comprises inherited disorders associated with fewer and larger platelets (macrothrombocytopenia); these disorders are clubbed together as inherited giant platelet disorders [Table - 1]. Two of these (May–Hegglin anomaly and Sebastian syndrome), associated with abnormal neutrophilic inclusions occur due to variable expression of the MYH-9 gene.[3] May–Hegglin anomaly consists of Dohle-like neutrophilic inclusions.[1] Dohle bodies are small, round to oval, pale-blue to grey structures usually found at the periphery of neutrophils, ultrastructurally consisting of ribosomes and endoplasmic reticulum.[4] In Sebastian syndrome on the other hand, as in our case, non-specific inclusions are found in the cytoplasm of neutrophils. Other MYH9-related disorders are Fechtner syndrome (deafness, cataract, nephritis) and Epstein syndrome (nephritis, sensorineural hearing loss).[5] The MYH9-related disorders are currently believed not to represent distinct entities but rather varied expressions of a single illness. They may be asymptomatic or present with easy bruising as in our case. Rarely, bleeding from other sites (nose, gums, vagina) may be present.[6]

Table 1: Inherited giant platelet disorders[5]

The main differential diagnoses ruled out in our case were acute idiopathic thrombocytopenia (acute onset, usually with bleeding from other sites and a prolonged bleeding time), various types of coagulation disorders (altered coagulation profile), child abuse (ruled out by a careful history and the absence of suggestive bruises elsewhere) and other inherited giant platelet disorders [Table - 1]. No systemic involvement was found in our case ruling out Fechtner and Epstein syndromes. The non-specific neutrophilic inclusions in our case pointed towards Sebastian syndrome.

Sebastian syndrome is an extremely rare autosomal dominant disorder, first described by Greinacher et al. in 1990.[7] Since then, only a handful of cases have been reported, including one South American [8] and six Japanese families.[9] It is characterized by the presence of thrombocytopenia with giant platelets and non-specific neutrophilic inclusions. Apart from easy bruising, there is usually no symptom. The pathogenesis of this condition is unclear though unusual expression of glycophorin A on the surface of platelets has been proposed.[10] There is no known specific treatment for Sebastian syndrome. Platelet transfusion is the treatment of choice in the rare situation of excessive bleeding. The role of 1-deamino-8-arginine vasopressin and spenectomy is controversial.[5]

Considering the history, clinical features and hematological picture in this case, we arrived at the diagnosis of an MYH9-related syndrome, most likely Sebastian syndrome.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

References
1.
James WD, Elston DM, Berger TG. Andrews' Diseases of the skin: Clinical Dermatology. 11th ed. United Kingdom: Saunders Elsevier; 2006p. 820-1.
[Google Scholar]
2.
Lackner H, Karpatkin S. On the “easy bruising” syndrome with normal platelet count. A study of 75 patients. Ann Intern Med 1975;83:190-6.
[Google Scholar]
3.
Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, et al. MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. Medicine (Baltimore). 2003;82:203-15.
[Google Scholar]
4.
Bain BJ. Blood cell morphology in health and disease. In Practical Haematology by Dacie and Lewis. In: Bain BJ, Bates I, Laffan MA, Lewis SM, editors. United Kingdom: Elsevier Saunders. 2012. p. 69-101.
[Google Scholar]
5.
Mhawech P, Saleem A. Inherited Giant Platelet Disorders: Classification and Literature review. Am J Clin Pathol 2000;113:176-90.
[Google Scholar]
6.
Wimalachandra MC, Prabashika MG, Gooneratne LV. Thrombocytopenia, giant platelets and Leukocyte inclusion bodies in a patient presenting with vaginal bleeding. Indian J Pathol Microbiol 2012;55:423-4.
[Google Scholar]
7.
Greinacher A, Nieuwenhuis HK, White JG. Sebastian platelet syndrome: A new variant of hereditary macrothrombocytopenia with leucocyte inclusions. Blut 1990;61:282-8.
[Google Scholar]
8.
Balderramo DC, Ricchi BN, Marun SG, Scaliter G, Alonso M. Sebastian: Report of the first case in a South American family. Haematologica 2007;88:e74-e7.
[Google Scholar]
9.
Kunishima S, Kojima T, Matsushita T, Tanaka T, Tsurusawa M, Furukawa Y, et al. Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). Blood 2001;97:1147-9.
[Google Scholar]
10.
Gilman AL, Sloand E, White JG, Sacher R. A novel hereditary thrombocytopenia. J Pediatr Hematol Oncol 1995;17:296-305.
[Google Scholar]

Fulltext Views
75

PDF downloads
15
Show Sections