Faisalabad histiocytosis: Difference between revisions
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{{CMG}}; {{AE}} {{RT}} | {{CMG}}; {{AE}} {{RT}} | ||
{{SK}} FHC | |||
==Overview== | ==Overview== | ||
'''Faisalabad histiocytosis''' is a familial histiocytic disorder . It is a type of '''histiocytosis - lymphadenopathy plus syndrome'''. | |||
Faisalabad histiocytosis is a familial histiocytic disorder . It is a type of histiocytosis - lymphadenopathy plus syndrome. | |||
==Historical Perspective== | ==Historical Perspective== | ||
Moynihan et al. described Faisalabad histiocytosis in a Pakistani family. It was named after the family's place of origin. | Moynihan et al. described Faisalabad histiocytosis in a Pakistani family. It was named after the family's place of origin. | ||
==Pathophysiology== | ==Pathophysiology== | ||
Faisalabad histiocytosis has an [[autosomal recessive]] pattern of [[inheritance]]. | |||
Faisalabad histiocytosis has an [[autosomal recessive]] pattern of inheritance. | |||
===Genetics=== | ===Genetics=== | ||
Homozygosity for splice site [[mutation]]s in the [[gene]] SLC29A3 were identified in the patients. | |||
Homozygosity for splice site | |||
==Differentiating from other diseases== | ==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]].<ref name="pmid16155931">{{cite journal |author=Rossbach HC, Dalence C, Wynn T, Tebbi C |title=Faisalabad histiocytosis mimics Rosai-Dorfman disease: brothers with lymphadenopathy, intrauterine fractures, short stature, and sensorineural deafness |journal=Pediatr Blood Cancer |volume=47 |issue=5 |pages=629–32 |year=2006 |month=October |pmid=16155931 |doi=10.1002/pbc.20605 |url=}}</ref> | |||
The histological features of Faisalabad histiocytosis | |||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
* The [[incidence]] of this disease is <10/100 000. Only three families with this disease were reported so far. | |||
* 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. | * This disease was reported in infants and children. | ||
==Diagnosis== | ==Diagnosis== | ||
===Symptoms=== | ===Symptoms=== | ||
* Joint problems | * Joint problems | ||
* [[Sensorineural hearing loss]] ([[SNHL]]) | * [[Sensorineural hearing loss]] ([[SNHL]]) | ||
===Physical examination=== | ===Physical examination=== | ||
====Appearance of the patient==== | |||
Patients with this disease have a [[short stature]]. | |||
====Eyes==== | ====Eyes==== | ||
* Rubbery swellings on the [[eyelids]]. | |||
====Ear==== | |||
* Tuning fork test shows [[sensorineural hearing loss]]. | |||
====Extremities==== | |||
* Joint deformities can be noted in these patients. | |||
==References== | |||
{{reflist|2}} | |||
[[Category:Disease]] | |||
[[Category:Genetic disorders]] | |||
{{WH}} | |||
{{WS}} | |||
Latest revision as of 18:14, 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]
Synonyms and keywords: FHC
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.[1]
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
- ↑ 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)