ONLINE SUBMISSION
  January, 2011

Smouldering Systemic Mastocytosis: A rare disorder with a difficult diagnosis

 
 


Madam, until recently, the Mastocytosis (MC) was viewed primarily as an effector cell in allergic diseases. However, it has been shown that MC's play a crucial role in many processes such as wound healing, tumour control, and transplant tolerance.1
The term mastocytosis denotes a heterogeneous group of disorders characterised by abnormal accumulation and growth of MC's.2 Systemic mastocytosis (SM), however, can develop at any age and is characterised by multifocal infiltrates of MC's in visceral organs with or without skin involvement.2
A particular category named 'smouldering mastocytosis' was introduced into the mastocytosis consensus classification at the 2001 meeting.3
Indolent SM, is a rare disease that may go unnoticed or may be misdiagnosed. The disease is a clonal disorder of the MC characterized by the proliferation and accumulation MC's within various organs of the body, most frequently the skin. Interaction between the cytokine stem cell factor (SCF) and its cognate receptor, c-kit (KIT), plays a vital role in regulating MC growth and differentiation.4 Activating mutations of the c-kit proto-oncogene play a casual role in the pathogenesis. The clinical symptoms and signs are owing to the buildup of these clonally derived MC's in diverse tissues, as well as the discharge of MC mediators, including histamine, heparin, prostaglandins, leucotrienes and cytokines. Manifestations range from exclusively cutaneous or indolent systemic disease, to systemic disease with an associated clonal haematological non-MC lineage disorder, to aggressive systemic mastocytosis, to MC leukaemia or sarcoma at the other end of the spectrum (WHO classification). The typical skin lesions are urticaria pigmentosa, which are monomorphic, pigmented, maculopapular or nodular lesions in a prevalent symmetrical distribution, frequently indicating Darier's sign (wheal and adjacent erythema developing in a lesion as a result of rubbing).
There is currently no effective curative therapy for systemic mastocytosis. In general, for cutaneous and indolent systemic mastocytosis, treatment is aimed at symptomatic relief; this is possible with the aid of agents like antihistamines and MC stabilizers.4 The novel agents' dasatinib, nilotinib and imatinib (tyrosine kinase inhibitors) may be effective for patients with severe symptoms or with aggressive mastocytosis5 although these are not of proven benefit. IM, in particular, is ineffective in the presence of a D816V mutation. Trials testing novel agents such as PKC-412 and stem cell transplant as a form of treatment are also underway for patients with the aggressive form of the disease.
Because of the non-specificity of some of the symptoms, SM can be difficult to diagnose. It is important for pathologists and clinicians to be aware that SM can be mistaken for an acute illness being infectious in nature.
 
Mohsin Shah
4th Year Undergraduate Medical Student, CMH Lahore Medical College,
University of Health Sciences, Lahore.


References

1.Galli SJ, Tsai M. Mast cells: versatile regulators of inflammation, tissue remodelling, host defense and homeostasis. J dermatol Sci 2008; 49: 7-19.
2.Lennert K, Parwaresch MR. Mast cells and mast cell neoplasia: a review. Histopathology 1979; 3: 349-65.
3.Valent P, Horny HP, Escribano L, Longley BJ, Li QY, Schwartz LB, et al. Diagnostic criteria and classification of mastocytosis: a consensus proposal. Leuk Res 2001; 25: 603-25.
4.Pardanani A, Akin C, Valent P. Pathogenesis, clinical features, and treatment advances in mastocytosis. Best Pract Res Clin Haematol 2006; 19: 595-615.
5.Verstovsek S, Tefferi A, Cortes J, O'Brien S, Garcia-Manevo G, Pardanani A, et al. Phase II study of dasatinib in Philadelphia chromosome-negative acute and chronic myeloid diseases, including systemic mastocytosis. Clin Cancer Res 2008; 14: 3906-15.


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Warm regards,
Dr. Fatema Jawad
Editor-in-chief,
Journal of Pakistan Medical Association, Karachi
President, PAME
Pakistan Association of Medical Editors



WHO/GOARN Request for technical assistance for Cholera Control in Northern Iraq

Request for assistance

WHO is requesting assistance from GOARN partners to identify the following cholera and diarrhoeal diseases expertise to support the Ministry of Health of Iraq in cholera risk assessment and immediate preparedness activities to improve the health outcomes of the Syrian refugees current living in camps in the Kurdistan region of Iraq.

  • two (2) epidemiologists
  • two (2) clinical management experts
  • one (1) environmental health expert (WATSAN)
  • one (1)laboratory expert

Duration

6 day mission starting 13 June 2014 (this excludes travel time).

Location

Northern Iraq (Kurdistan region).

Language requirements

All candidates must be fluent in English- written, spoken and comprehension. Fluency in Arabic is an asset. Knowledge, abilities and skills All candidates are expected to demonstrate the following

  • Ability to conceptualize and promote innovative strategies and policies.
  • Ability to communicate and write in a clear concise manner, and to develop effective guidelines.
  • Excellent negotiation and interpersonal skills complemented by ability to motivate and lead others and to promote consensus. Tact, discretion and diplomacy
  • Demonstrated ability for project appraisal, project management, monitoring and evaluation and project impact assessment.
  • Ability to work with host governments and their agents, INGOs and national NGOs an advantage.
  • Proven experience of managing a large workload and multiple priorities.
  • Ability to work in difficult conditions.

Support to the mission

WHO/GOARN will cover the travel and per diem (to cover daily expense in the field) expenses for the duration of their mission. GOARN missions do NOT offer salary, consultancy fees or any other form of remuneration.

WHO will provide appropriate logistics support for the field mission. Pre-deployment orientation/training may be required at WHO.

Partners offers of assistance

Partners are requested to reply with offers of assistance, together with CVs and details of the availability of staff for this mission by email to goarn@who.int latest by 30 May 2014. Details of all offers from partners and eventual deployments will be maintained on the GOARN SharePoint.

Operational Contacts

Mamunur Malik WHO EMRO malikm@who.int

William Perea WHO HQ pereaw@who.int

Patrick Drury GOARN druryp@who.int



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