Avascular Necrosis of Head of Femur in Dyskeratosis Congenita - A Rare Presentation

Abstract

Avascular necrosis of head of femur is a rare presentation in Dyskeratosis Congenita (DC). Aplastic anaemia, increased susceptibility to infections and fatal pulmonary complications often complicate the clinical scenario in these patients leading to short life span and difficulty in performing surgical interventions. The diagnosis initially and subsequent management by total hip replacement posed a great challenge. To our knowledge this is the first case report of any intervention in form of total hip Arthroplasty done in DC. At 5 years of follow up the patient is asymptomatic with no radiographic signs of loosening or lysis.

Dyskeratosis congenita: a literature review

“…Oral leukoplakia: Although some reports have documented normal oral mucosa , , , , white or black patches representing leukoplakia , , , , –, , ––––, are prevalent in 80 % of cases , . Leukoplakia may occur at birth or within few months of life , .…”

Dyskeratosis congenita: ein Literaturüberblick

“…Orale Leukoplakie: Obwohl in einigen Berichten eine normale Mundschleimhaut dokumentiert wurde , sind weiße oder schwarze Läsionen, die einer Leukoplakie entsprechen – –––– , bei 80 % der Fälle vorhanden . Die Leukoplakie kann bei Geburt vorhanden sein oder innerhalb der ersten Lebensmonate auftreten .…”