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

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

The diagnosis of Fraser syndrome is made based on physical examination and medical history.There is currently no cure for Fraser syndrome.Treatment of FS may include surgery to correct the physical deformities.Other treatments are is symptomatic and supportive.A team of specialists must evaluate each patient and determine ways to treat the symptoms.However, it should be noted tha  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

Boys with X-linked ichthyosis appear normal at birth. The skin symptoms generally appear within the first year of life. Brownish scales that adhere to the skin are among the first signs of the disorder. The back and legs are most frequently involved early. The face, scalp, palms and soles, and hollows of the elbows and knees are usually spared. In about half of adult males, comma-shaped corneal opacities occur in the eyes (seen on exam  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

Boys with X-linked ichthyosis appear normal at birth. The skin symptoms generally appear within the first year of life. Brownish scales that adhere to the skin are among the first signs of the disorder. The back and legs are most frequently involved early. The face, scalp, palms and soles, and hollows of the elbows and knees are usually spared. In about half of adult males, comma-shaped corneal opacities occur in the eyes (seen on exam  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

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