Faisalabad histiocytosis: Difference between revisions
| Line 41: | Line 41: | ||
====Eyes==== | ====Eyes==== | ||
* Rubbery swellings on the eyelids | * Rubbery swellings on the eyelids | ||
====Ear==== | ====Ear==== | ||
* Tuning fork test shows [[sensorineuronal hearing loss]] | * Tuning fork test shows [[sensorineuronal hearing loss]] | ||
====Extremities==== | |||
====Extremities=== | |||
* Joint deformities can be noted in these patients. | * Joint deformities can be noted in these patients. | ||
==References== | ==References== | ||
Revision as of 17:54, 31 July 2012
| Faisalabad histiocytosis | |
| OMIM | 602782 |
|---|---|
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]
Overview
Faisalabad histiocytosis is a familial histiocytic disorder . It is a type of histiocytosis - lymphadenopathy plus syndrome.
Historical Perspective
Moynihan et al. described Faisalabad histiocytosis in a Pakistani family. It was named after the family's place of origin.
Pathophysiology
Faisalabad histiocytosis has an autosomal recessive pattern of inheritance.
Genetics
Homozygosity for splice site mutations in the gene SLC29A3 were identified in the patients.
Differentiating from other diseases
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.
Epidemiology and Demographics
- 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
Symptoms
- Joint problems
- Sensorineural hearing loss (SNHL)
Physical examination
Eyes
- Rubbery swellings on the eyelids
Ear
- Tuning fork test shows sensorineuronal hearing loss
Extremities
- Joint deformities can be noted in these patients.
References