ABSTRACT
Ectodermal dysplasia (ED) is a group of several genetic conditions with absence or dysgenesis of at least two ectodermal derivatives: teeth, skin and its appendages including hair, nails, eccrine and sebaceous glands. The most important clinical findings in patients with ED are hypodontia, hypotrichosis, and hypohidrosis, which can lead to episodes of hyperthermia. Few reports have focused on the progressive keratopathy in ED. Cicatrizing conjunctivitis associated with anti-basement membrane autoantibodies has been described. We report a series of three ectodermal dysplasia patients with an ocular phenotype typically seen in ocular mucous membrane pemphigoid; conjunctival immunohistopathology revealed anti-basement membrane autoantibodies in all of them, and systemic immunosuppression proved to be effective in improving symptoms and helping to stabilize ocular surface disease.
Subject(s)
Autoantibodies/immunology , Basement Membrane/immunology , Conjunctiva/pathology , Ectodermal Dysplasia/immunology , Pemphigoid, Benign Mucous Membrane/diagnosis , Basement Membrane/pathology , Conjunctiva/immunology , Ectodermal Dysplasia/diagnosis , Ectodermal Dysplasia/etiology , Female , Humans , Middle Aged , Pemphigoid, Benign Mucous Membrane/complications , Pemphigoid, Benign Mucous Membrane/immunologyABSTRACT
Familial amyloidosis of the Finnish type or Meretoja syndrome is a rare autosomic dominant inherited systemic condition. It was first described by Meretoja in Finland in 1969. It is a disease produced by a single mutation in the gene coding for gelsolin, which generates an abnormal protein that cumulates in tissues and leads to various signs. Obtaining an early diagnosis can be challenging, as the first manifestations of the disease are ophthalmological and may only be seen with slit-lamp biomicroscopy. We present the first 3 cases diagnosed in Argentina, confirmed by genetic molecular testing.
