Xerodermapigmentosum: Case report of two siblings.

نویسندگان

  • Mathur A
  • Manghera P
  • Bhakal Ss
  • Malhotra H
چکیده

Xeroderma pigmentosum (XP) is a rare disorder, inherited as an autosomal recessive gemodermatosis. It is characterized by photosensitivity, freckly pigmented changes, premature skin ageing, telegiectasis, warty and papillomatous growth and malignant tumor development in later stage. It results from mutation in seven nucleotide excision repair gene (XP-A to XP-G complement groups) and post replication repair defect (XP-Variant). We present a case of two siblings. The first 5 year old and the other is 3 year old male child, both affected by Xeroderma Pigmentosum.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Aplasia Cutis Congenita of the Scalp with a Familial Pattern: A Case Report

Aplasia Cutis Conginita (ACC) is a condition characterized by congenital absence of skin, usually on the scalp. ACC can occur as an isolated condition or in the presence of other congenital anomalies. Here we describe a case of a 16 days old baby girl with an isolated ACC of the scalp. Her elder two siblings have been diagnosed with ACC with concomitant cardiac or limb anomalies. The patient wa...

متن کامل

FAMILIAL COLLOID CYST OF THE THIRD VENTRICLE: A CASE REPORT AND REVIEW OF THE LITERATURE

Familial colloid cyst of the third ventricle is very rare. This is one of the two largest families reported and the first in which all affected members are siblings. One asymptomatic sister was found by screening, emphasizing the value of screening. A brother and two sisters from a family consisting of three brothers and three sisters who were diagnosed as having colloid cyst of the third v...

متن کامل

بروز نادر خانوادگی وردینگ هافمن

  Background: Werding-Hoffmann disease is a degenerative disease of motor neurons that begins in fetus and continues to be progressive in infancy and childhood. Most of them die by 2 years of age because of respiratory failure. The simplest and most accurate method of diagnosis is detection of serum genetic marker of SMA.   Case report: In this article a neonate with Werding-Hoffmann disease is...

متن کامل

مقایسه رفتارهای سازگاری خواهر یا برادر کودکان مبتلا به بیماری مزمن با کودکان سالم

This research is a descriptive-analytical study conducted with the aim of examining and comparing adjusted behaviors of children (brothers and sisters) suffering from a chronic disease, referred to treatment centers with the siblings of the healthy children of the same age, in Tehran. The research sample was a group of 300 children along with a pair of parents. They were divided into groups of ...

متن کامل

Bilateral pterygium in the two siblings

Pterygia are fibrovascular connective tissue overgrowths of bulbar conjunctiva onto the cornea. There is a worldwide distribution of pterygium, but it occurs more commonly in warm, dry climates. Patients younger than the age of 15 rarely acquire a pterygium. We report a case of bilateral nasal pterygium in two siblings. A 10-year-old boy and a 12-year-old girl who are siblings presented with bi...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • The Journal of the Association of Physicians of India

دوره 64 1  شماره 

صفحات  -

تاریخ انتشار 2016