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Wild-type Blocking PCR Combined with Sanger Sequencing for Detection of Low-frequency Somatic Mutation

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Multicentric reticulohistiocytosis.

Sejal P Shah¹, Aditya M Shah, Sachin M Prajapati

¹Department of Dermatology, SBKS Medical College and Research Centre, Sumandeep Vidyapeeth, Pipariya, Waghodia, Baroda, Gujarat, India.

Indian Dermatology Online Journal

|November 7, 2012

Summary

Multicentric reticulohistiocytosis is a rare systemic disease causing painful nodules and arthritis. Histopathology confirmed this rare condition in a 55-year-old female patient.

Keywords:

Arthritis giant-cell reticulohistiocytosis multicentric reticulohistiocytosis

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Area of Science:

Rheumatology
Dermatology
Pathology

Background:

Multicentric reticulohistiocytosis (MRH) is a rare, systemic granulomatous disease with unknown etiology.
It affects multiple organs, including skin, joints, and internal organs, presenting with characteristic histopathology.

Observation:

A 55-year-old female presented with multiple painful nodules on extremities, neck, and back.
Lesions were predominantly periarticular, associated with arthropathies and smaller nodules on ear helices.
No other significant clinical or investigative abnormalities were noted.

Findings:

Histopathological examination confirmed the diagnosis of multicentric reticulohistiocytosis.
The distinct histopathology is key to diagnosing this rare granulomatous condition.

Implications:

Early diagnosis and management of MRH are crucial for preventing joint destruction and systemic complications.
Further research into the etiology and pathogenesis of MRH may lead to targeted therapies.
This case highlights the importance of considering rare diseases in the differential diagnosis of patients with polyarthritis and cutaneous nodules.