Faisalabad histiocytosis

OMIM | 602782

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:  Raviteja Guddeti, M.B.B.S. [2]

Synonyms and keywords: FHC

## Overview

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Faisalabad histiocytosis is a familial histiocytic disorder . It is a type of histiocytosis - lymphadenopathy plus syndrome.

## Historical Perspective

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Moynihan et al. described Faisalabad histiocytosis in a Pakistani family. It was named after the family's place of origin.

## Pathophysiology

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Faisalabad histiocytosis has an autosomal recessive pattern of inheritance.

### Genetics

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Homozygosity for splice site mutations in the gene SLC29A3 were identified in the patients.

## Differentiating from other diseases

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The histological features of Faisalabad histiocytosis resemble those of Rosai-Dorfman disease (RDD). RDD can be differentiated from Faisalabad histiocytosis by the presence of massive painless cervical lymphadenopathy, fever, elevated erythrocyte sedimentation rate and presence of polyclonal hypergammaglobulinemia.[1]

## Epidemiology and Demographics

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* The incidence of this disease is <10/100 000. Only three families with this disease were reported so far.
* This disease was reported in infants and children.

## Diagnosis

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### Symptoms

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* Joint problems
* Sensorineural hearing loss (SNHL)

### Physical examination

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#### Appearance of the patient

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Patients with this disease have a short stature.

#### Eyes

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* Rubbery swellings on the eyelids.

#### Ear

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* Tuning fork test shows sensorineural hearing loss.

#### Extremities

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* Joint deformities can be noted in these patients.

## References

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1. ↑ Rossbach HC, Dalence C, Wynn T, Tebbi C (2006). "Faisalabad histiocytosis mimics Rosai-Dorfman disease: brothers with lymphadenopathy, intrauterine fractures, short stature, and sensorineural deafness". Pediatr Blood Cancer. 47 (5): 629–32. doi:10.1002/pbc.20605. PMID 16155931. Unknown parameter `|month=` ignored (help)CS1 maint: Multiple names: authors list (link)

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