Argyria is a rare condition that causes the skin to turn blue or grey. This discolouration happens when the body comes into contact with excessive amounts of silver.There is no defined treatment for this disease. It can be treated by the restriction of the underlying cause.This could be the use of colloidal silver therapy, hydroquinone usage for skin conditions, silver dental fillings etc.When the  Read More

Hairy tongue is an uncommon, benign condition that is also known as black hairy tongue or lingua nigra. It is characterized by abnormal elongation and blackish or dark brownish discoloration or "staining" of the thread-like elevations (filiform papillae) that cover most of the tongue's surface (dorsum linguae). Such changes often begin at the back (posterior) region of the top of the tongue and extend toward the front (anterior) of the tongue'  Read More

Blue rubber bleb nevus syndrome (BRBNS) is a rare blood vessel (vascular) disorder that affects the skin and internal organs of the body. Multiple distinctive skin lesions are usually characteristic of this disorder and are often present at birth or present during early childhood. Lesions in the gastrointestinal tract frequently become apparent during childhood or early adulthood. The lesions are multifocal venous malformations, resulting from  Read More

Johanson-Blizzard syndrome (JBS) is an extremely rare genetic disorder that affects multiple organ systems of the body. Many symptoms are present at birth (congenital) or early childhood. The spectrum of potential features and physical findings associated with JBS is wide and varied and can differ dramatically from one person to another. However, characteristic features include insufficient intestinal absorption (malabsorption) of fats and oth  Read More

Type 1 Classic Phenotype The signs and symptoms of males with the type 1 classic phenotype typically begin in childhood or adolescence (Desnick 2001, Desnick and Brady 2004). Symptoms increase with age primarily due to the progressive glycolipid accumulation in the micro-vascular system, kidney podocytes, and cardiomyocytes leading to kidney insufficiency and failure, heart disease, and/or strokes. Early and progressive clinical sympto  Read More

Formaldehyde is a chemically active organic compound, found intrinsically in the environment. It has a stifling odor with a colorless gas. Formaldehyde is generally called formalin. In addition, Formaldehyde is Known as a "human carcinogen" it plays an imperative role in causing leukemia, nasopharyngeal cancer and many more. Hence, formaldehyde exposure must be limited.It has prevalent uses in a major are  Read More

Type 1 Classic Phenotype The signs and symptoms of males with the type 1 classic phenotype typically begin in childhood or adolescence (Desnick 2001, Desnick and Brady 2004). Symptoms increase with age primarily due to the progressive glycolipid accumulation in the micro-vascular system, kidney podocytes, and cardiomyocytes leading to kidney insufficiency and failure, heart disease, and/or strokes. Early and progressive clinical sympto  Read More

Chronic granulomatous disease (CGD) is a rare inherited primary immune deficiency disorder that affects certain white blood corpuscles (neutrophils, monocytes, macrophages, eosinophils). The disorder is characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, and bones may occur along with swollen ar  Read More

Pitted keratolysis is a skin illness that develops microscopic holes in your skin's top layer.It primarily affects the soles of your feet, but it can also affect your hands' palms.This condition's little holes or pits usually do not pain or itch, but they might become tender or irritating.They may also experience a burning feeling.These bacteria multiply at infection sites and  Read More

Malignant atrophic papulosis is an uncommon vasculopathy that affects the skin, gastrointestinal tract, and nervous system. The systemic variant has a rapid clinical course and a high death rate.TreatmentThere is no effective treatment for atrophic papulosis. Anticoagulants and blood perfusion drugs such as acetylsalicylic acid, pentoxifylline, dipyridamole, ticlopidine, and heparin have achieved partial regr  Read More

Rothmund-Thompson syndrome is a genetic condition inherited in an autosomal recessive manner.It has been discovered that two-thirds of people with RTS have RECQL4 gene mutation.This gene produces a protein involved in the replication and repair of DNA, the body's genetic material, whose holistic function is yet to be discovered.Since this gene does not show identifiable mutations in around one  Read More

Systemic sclerosis, commonly referred to as scleroderma, is a group of rare disorders that cause the skin to tighten and harden. Additionally, it could affect the digestive system, internal organs, and blood vessels.Scleroderma is frequently labelled as "limited" or "diffuse," which merely describes how much skin is affected. Both forms may involve any other organ or vascular issues. Skin alone  Read More

PXE results in a variety of signs and symptoms that vary in their number, type, and severity from person to person. Certain effects of PXE can cause serious medical problems, while others have less impact. Effects may include: skin changes, changes in the retina of the eye that may result in significant loss of central vision, changes in the cardiovascular system that may involve calcification of arteries and decreased blood flow in the arms a  Read More