Faisalabad histiocytosis

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

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.