white sponge nevus (wsn) is a rare hereditary dyskeratotic hyperplasia of mucous membranes. it is an autosomal dominant disorder with variable penetrance. we report a case of wsn in a healthy 21-year-old male with no history of familial involvement. a white smooth plaque with no erythema or other structural abnormalities was observed, which confirmed the diagnosis of wsn histopathologically.

Chorea occurs as a hereditary or non-hereditary disorder. Nonhereditary chorea most commonly occurs in rheumatic fever (Sydenham’s Chorea) but may also be encountered in other metabolic and systemic disorders. Green House and Albuquerque listed more than forty different causes of chorea. The etiology of non-rheumatic chorea may cause diagnostic difficulties, due to its rarity. We report a 75 ye...

BACKGROUND Hereditary angioedema is a rare autosomal dominantly inherited immunodeficiency disorder characterized by potentially life-threatening angioedema attacks. OBJECTIVE We aimed to investigate the clinical and genetic features of a family with angioedema attacks. METHODS The medical history, clinical features and C1-INH gene mutation of a Turkish family were investigated and outcomes...

Introduction: Maxillary osteomyelitis is a rare phenomenon. If it occurs, evaluation for underlying disease especially osteopetrosis must be considered. Osteomyelitis occurs as a complication in 10% of the cases of osteopetrosis. Case report: This is a case report of maxillary osteomyelitis presented in a 15-year old boy with osteopetrosis.  In this case, the disease represented mainly with ...

Hereditary hyperferritinaemia-cataract syndrome (HHCS) is a rare differential diagnosis of hereditary haemochromatosis. It should be suspected in patients with raised ferritin levels, but no evidence of iron overload, and in the absence of mutations in the HFE gene. Awareness of this condition prevents unnecessary liver biopsies and allows accurate genetic counselling since HHCS is an autosomal...

Hereditary angioedema is an autosomal dominant disorder of the complement system in which there is a deficiency of the inhibitor of the activated first component of complement. We have previously reported on three generations of a family with classic hereditary angioedema. Three members of this family have now developed IgA nephropathy. The association of hereditary angioedema with various immu...

Hereditary hemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu syndrome is an inherited disorder characterized by vascular dysplasias leading to hemorrhages. If affects approximately 1 in 10,000 Caucasian people. The most common presentation chronic and recurrent epistaxis whereas bleeding from other sites can lead life-threatening complications.