H O T S

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Actually I’ve heard this story told verbally to me years ago and later I stumbled upon the video on YouTube. One of the video description really intrigued me to search the real explanation behind this phenomena. I owe it to myself because I am not just going to blindly believe the story. In most of the people when they couldn’t find the real explanation to such phenomena, they will creatively made up such story to best explained it. Some of the story told with motive to suggest moral value and edify our religious beliefs. But this noble cause should never undervalue the truth. I believe as a man of science we should help people to best understand the case rather than be consumed with awe and astonishment.

Below is the caption that came with the video:

Ceritanya berlaku kat hospital Makkah. Ibu malang ini telah mempunyai 2 orang anak perempuan dan mengandungkan anak ketiganya yang menurut kata doktor anak itu juga seorang perempuan. Memandangkan ibu itu sudah mempunyai 2 anak perempuan jadi dia teringin pula anak lelaki. Oleh kerana doktor mengatakan anak yang dikandungnya adalah perempuan, dia merasa sedih dan setiap kali orang tanyakan kandungannya lelaki ke perempuan (semasa dia mengandung) dengan berseloroh dia menjawab dia mengandungkan anak ular. Tiba hari yang ditentukan dia melahirkan bayi di dalam kandungannya itu, maka dia telah melahirkan anak yang menyerupai wajah ular.

ANALYSIS

Also known as harlequin ichthyosis, ichthyosis congenita, Ichthyosis fetalis or keratosis diffusa fetalis

Introduction

Categorized under genetic disease for occurence and later as dermatology for course of treatment.

Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures). These skin abnormalities affect the shape of the eyelids, nose, mouth, and ears, and limit movement of the arms and legs. Restricted movement of the chest can lead to breathing difficulties and respiratory failure.

The skin normally forms a protective barrier between the body and its surrounding environment. The skin abnormalities associated with harlequin ichthyosis disrupt this barrier, making it more difficult for affected infants to control water loss, regulate their body temperature, and fight infections. Infants with harlequin ichthyosis often experience an excessive loss of fluids (dehydration) and develop life-threatening infections in the first few weeks of life. It used to be very rare for affected infants to survive the newborn period. However, with intensive medical support and improved treatment, people with this disorder now have a better chance of living into childhood and adolescence.

Prevalence
Harlequin ichthyosis is very rare; its exact incidence is unknown.

Gene Mutation
Mutations in the ABCA12 gene cause harlequin ichthyosis. The ABCA12 gene provides instructions for making a protein that is essential for the normal development of skin cells. This protein plays a major role in the transport of fats (lipids) in the outermost layer of skin (the epidermis). Some mutations in the ABCA12 gene prevent the cell from making any ABCA12 protein. Other mutations lead to the production of an abnormally small version of the protein that cannot transport lipids properly. A loss of functional ABCA12 protein disrupts the normal development of the epidermis, resulting in the hard, thick scales characteristic of harlequin ichthyosis.

Inheritence Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

QUAERE VERUM (SEEK THE TRUTH)

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