Bloom syndrome is a rare genetic disorder characterized by short stature; increased sensitivity to light (photosensitivity); multiple small dilated blood vessels on the face (facial telangiectasia), often resembling a butterfly in shape; immune deficiency leading to increased susceptibility to infections; and, perhaps most Importantly, a markedly increased susceptibility to cancer of any organ, but especially to leukemia and lymphoma. Some cli  Read More

Bloom syndrome is a rare genetic disorder characterized by short stature; increased sensitivity to light (photosensitivity); multiple small dilated blood vessels on the face (facial telangiectasia), often resembling a butterfly in shape; immune deficiency leading to increased susceptibility to infections; and, perhaps most Importantly, a markedly increased susceptibility to cancer of any organ, but especially to leukemia and lymphoma. Some cli  Read More

Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disorder characterized by a deficiency of the enzyme ferrochelatase (FECH). Due to abnormally low levels of this enzyme, excessive amounts of protoporphyrin accumulate in the bone marrow, blood plasma, and red blood cells. The major symptom of this disorder is hypersensitivity of the skin to sunlight and some types of artificial light, such as fluorescent lights (photosensitivit  Read More

Ichthyosis Chanarin Dorman syndrome (CDS) is a rare autosomal disease that is also known as Ichthyotic Neutral Lipid Storage Disease with Ichthyosis (NSLDi). The mutations in the gene ABHD5 that is located on the short arm of chromosome 3.The gene encodes for a stimulating factor called the alpha-beta hydrolase domain, which is crucial for the enzyme Adipose TriGlyceride Lipase (ATGL).The primary role of A  Read More

KID syndrome is present at birth. Nearly all cases have skin involvement, which includes red, rough, thickened plaques that are sometimes scaling, as well as sensorineural deafness or severe hearing impairment. Most patients develop eye findings, predominantly keratitis (superficial defects of the cornea), which may result in the eyes being very sensitive to light (photophobia), small blood vessels growing from the iris over the cornea  Read More

Keratosis follicularis is a genetic condition that emerges at random as a consequence of a sudden genetic alteration or as an autosomal dominant feature.Genetic disorders are caused by the combination of genes for a specific trait on the chromosomes inherited from both parents.Dominant genetic illnesses develop when only one copy of a defective gene is required for the disease to manifest.The faul  Read More

Localized Epidermolysis bullosa simplex (EBS) is a genetic disease, which means that it is caused by one or more genes not working correctly.The majority of EBS subtypes are inherited in a dominant manner. This means that an affected parent passes them on to half of his or her offspring. EBS affects both men and women equally.Epidermolysis bullosa simplex is often transmitted in an autosomal dominant manne  Read More

Morgagni-Stewart-Morel syndrome is in-short, known as MSM syndrome.The exact cause of the disease is yet to be unraveled, and its manifestations are yet to be completely described.The disease was known to cause neurological manifestations.However, endocrinal and metabolic abnormalities have been found to be associated with the disease.The autosomal dominant genetic mutations have been bel  Read More

The most common symptom associated with neonatal lupus is a rash that consists of reddish, ring-like skin lesions and resembles the rash associated with systemic lupus erythematosus. The rash is temporary (transient), usually developing during the first few weeks of life and clearing up at some point during the next several months. In rare cases, skin lesions may persist into childhood. The face and scalp are most commonly affected. The raccoo  Read More

Bloom syndrome is a rare genetic disorder characterized by short stature; increased sensitivity to light (photosensitivity); multiple small dilated blood vessels on the face (facial telangiectasia), often resembling a butterfly in shape; immune deficiency leading to increased susceptibility to infections; and, perhaps most Importantly, a markedly increased susceptibility to cancer of any organ, but especially to leukemia and lymphoma. Some cli  Read More

The symptoms of PCT can vary greatly from one individual to another. Skin abnormalities characterize this disorder. Affected individuals are abnormally susceptible to damage of the skin from sunlight (photosensitivity). Extremely fragile skin that can peel or blister on minimal impact is common. Affected individuals may develop blistering skin lesions on areas of the skin that are frequently exposed to the sun such as the hands and face. These  Read More

Short stature, an unusually small head (microcephaly), and brain abnormalities that may cause intellectual incapacity are the hallmarks of the rare genetic illness weber-cockayne disease or cockayne Syndrome (CS).Children who have the condition may also experience photosensitivity, peripheral nerve inflammation, breakdown of the myelin sheath that protects nerve fibers, hearing loss, vision problems like cataracts,  Read More