Autoimmune Diseases and Acquired Von Willebrand Disease in Two Cases of Progeria

Monem Makki Alshok

doi:10.4236/ijcm.2014.520162

Abstract

Ammar A., a 23-year-old male patient, who lives in Babylon, Haswa District, and his mother describes symptoms of growth retardation, skin changes, hair changes early graying and alopecia. These manifestation started early during his childhood period. There is canseguanity between the patient’s mother & father also one of the patient’s sister has similar illness and one male brother died few months following his birth. We admit the patient to hospital due acute pulmonary infection in Jan 2009, which is controlled after a course of antibiotic and after 5 months he develops generalised mucocuteneous bullous eruption which shows partial response to oral prednisolone 2 mg/Kg. The patient has normal IQ and he is in the secondary school and he has normal blood picture and the only abnormal biochemical abnormalities is mild hyperlipidemia Serum cholestrol of 5.8 mmol/L and Serum Triglyceride of 260 mg/dl. Ammar’s Sister Qawthar A., who has a similar phenotypic manifestations, presented skin vitiligo and hepatosplenomegaly associated with sever anemia and jaundice and her presentation suggestive of autoimmune haemolytic anemia improved following blood transfusion, corticosteroid and azothioprim. In February 2014 Ammer presented with multiple and diffuse cuteneous ecchymymosis with markedly prolonged PTT and slightly proloned bleeding time highly consistent with acquired Von Willebrand’s disease. In conclusion premature aging is a predisposing factor for disturbed immunity and development of autoimmune diseases.

Highlights

IntroductionProgeria affects approximately one out of every eight million children, with only a few hundred cases seen
Progeria affects approximately one out of every eight million children, with only a few hundred cases seenHow to cite this paper: Alshok, M.M. (2014) Autoimmune Diseases and Acquired Von Willebrand Disease in Two Cases of Progeria
The main cuteneous manifestation described in our patient is Pemphigus and this indicates that these patients might be susceptible to certain autoimmune disorders due to a genetically induced immunological defects

Summary

Introduction

Progeria affects approximately one out of every eight million children, with only a few hundred cases seen. Children with progeria have normal intellectual capabilities and can learn just as well as (if not better than) other children of their same age and demonstrate the same range of emotions and feelings as other children They do often remain very reserved in the presence of strangers, because they are aware very early on in life that they appear very different than their peers [2]. Progeria is caused by a change in the lamin A (LMNA) gene. There seem to be several other genes that contribute to the symptoms of the disease, but these have not yet been identified It is unclear at this point how exactly the changes in the lamin A lead to the typical disease symptoms. The present case demonstrates that progeria might be associated with different mucucuteneous manifestations and defects in the immunity [5]

Case Report

Findings

Discussion