Faisalabad histiocytosis

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[edit | edit source]

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

Historical Perspective[edit | edit source]

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

Pathophysiology[edit | edit source]

Faisalabad histiocytosis has an autosomal recessive pattern of inheritance.

Genetics[edit | edit source]

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

Differentiating from other diseases[edit | edit source]

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[edit | edit source]

• 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[edit | edit source]

Symptoms[edit | edit source]

• Joint problems
• Sensorineural hearing loss (SNHL)

Physical examination[edit | edit source]

Appearance of the patient[edit | edit source]

Patients with this disease have a short stature.

Eyes[edit | edit source]

• Rubbery swellings on the eyelids.

Ear[edit | edit source]

• Tuning fork test shows sensorineural hearing loss.

Extremities[edit | edit source]

• Joint deformities can be noted in these patients.

References[edit | edit source]

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