Faisalabad histiocytosis: Difference between revisions
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===Genetics=== | ===Genetics=== | ||
Homozygosity for splice site | Homozygosity for splice site [[mutation]]s in the [[gene]] SLC29A3 were identified in the patients. | ||
==Differentiating from other diseases== | ==Differentiating from other diseases== | ||
Revision as of 18:09, 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
Appearance of the patient
Patients with this disease have a short stature.
Eyes
- Rubbery swellings on the eyelids.
Ear
- Tuning fork test shows sensorineural hearing loss.
Extremities
- Joint deformities can be noted in these patients.
References