Ectodermal Dysplasia is a hereditary disorder commonly associated with trichodysplasia (abnormal hair), onchodysplasia nails), dyshidrosis or missing sweat glands) and abnormal dentition. Due to ectodermal dysplasia, for missing, abnormally shaped, mal-positioned teeth, wide range of prosthetic options are available oral rehabilitation. This case report represents prosthodontic rehabilitation c...

Hereditary sensory and autonomic neuropathy type 2 is a rare disorder caused by recessive mutations in the WNK1/HSN2 gene located on chromosome 12p13.33. Phenotype of the patients is characterized by severe sensory loss affecting all sensory modalities. We report a novel homozygous Lys179fsX182 (HSN2); Lys965fsX968 (WNK1/HSN2) mutation causing an early childhood onset hereditary sensory and aut...

By PAUL HELLER, JOHN VAN STONE, DAVID APPLE AND RICHARD D. COLEMAN A RARE FORM of hereditary anemia characterized by hypochromia of the erythrocytes in tile presence of increased iron stores has been designated by Heilmeyer1’2 as “hereditary hypochromic sideroachrestic anemia.” Garby and his co-workers3 and Hei1meyer1’ ’ have suggested that in this disorder heme synthesis is disturbed possibly ...

Hereditary Haemorrhagic Telangiectasia also known as Osler-Rendu-Weber disease is a rare autosomal dominant disorder affecting small vessels of skin and mucosa, usually misdiagnosed because of its non specific symptomatology. This disease usually presents as epistaxis, gastrointestinal bleeding and visceral arteriovenous malformations. Although the epistaxis and gastrointestinal blood loss can ...

Albright hereditary osteodystrophy is a hereditary metabolic disorder of dominant autosomal etiology that is commonly characterized by short stature, round face, small metacarpus and metatarsus, mental retardation, osteoporosis, subcutaneous calcification, variable hypocalcemia, and hyperphosphatemia. In this study, we report a clinical case of a 17-year-old woman with Albright hereditary osteo...

Hereditary Haemorrhagic Telangiectasia, also known as Osler-Rendu-Weber disease is a rare autosomal dominant disorder affecting small vessels of multiple systems whose main pathological change is the presence of abnormal arteriovenous communications. Usually presents as skin and mucosal telangiectasias, epistaxis, gastrointestinal bleeding and visceral arteriovenous malformations. Although the ...

Laugier-Hunziker syndrome is a rare, hereditary pigmentary disorder characterized by mucocutaneous lentiginous lesions and melanonychia. The condition regarded as benign since underlying malignancies or systemic disorders were not reported. Since various malignancy syndromes including Peutz-Jeghers Cronkhite-Canada cause of hyperpigmentation such Addison disease drugs are presented with similar...

Hereditary multi-infarct dementia is a rare autosomal dominant disorder that predominantly affects the cerebral white matter. A locus was recently mapped in French pedigrees to chromosome 19q12. We have examined a large Scottish pedigree with neuropathologically confirmed hereditary multi-infarct dementia using polymorphic DNA markers spanning the 19q12 region and found no evidence of linkage. ...