Tag Archives: Genetics

What is Xeroderma Pigmentosum?

In this article we will discuss about What is Xeroderma Pigmentosum? So let’s get started.

Xeroderma Pigmentosum

It is a autosomal recessive type of genetic disorder. It is caused due to genetic mutation in gene that repair damaged DNA, with mutation in the nucleotide excision repair (NER) enzyme. Mutation in XPG (ERCC5) gene can alone cause Xeroderma Pigmentosum. It’s frequency is 1 in 250,000 people in US, 1 in 20,000 in Japan and 1 in 430,000 in Europe. It was first discovered by Moritz Kaposi in 1870s. Symptoms include severe sunburn with just few minutes if sun exposure, freckles in sun exposed areas, corneal ulceration, eyes are painfully sensitive to sun and gets easily irritated, bloodshot and clouded, solar keratoses or rough surface growth, skin cancers, dry skin and presence of spider veins or telangiectasia. Complication includes skin cancer, brain cancers and cataracts. Treatment is avoid sun exposure, Vitamin D supplementation, retinoid creams. Average life expectancy is about 30 years.


What is Adams-Oliver Syndrome?

In this article we will briefly discuss about What is Adams-Oliver Syndrome? So let’s get started.

Adams-Oliver Syndrome

It is a rare genetic disease of autosomal dominant or autosomal recessive type. It is caused due to mutation of ARHGAP31, DLL4, NOTCH1, RBPJ, DOCK6 and EOGT gene, when the mutation occurs in ARHGAP31, DLL4, NOTCH1 and RBPJ geneit is of autosomal dominant type while in case of DOCK6 and EOGT gene it is of autosomal recessive type. It is characterised by absence of skin on the scalp i.e aplasia cutis congenita and transverse limb defects like short or missing digits i.e brachydactyly or oligodactyly or fused digits i.e syndactyly of upper and lower extremities other manifestation includes mottled skin appearance i.e cutis marmorata, telangiectatica congenita along with these vascular abnormalities are also present like hypoplastic aortic arch, absent portal vein, portal sclerosis, arteriovenous malformations etc.