The first sign of Sjögren-Larsson syndrome is often preterm birth. Apparent at birth, the ichthyosis associated with SLS often starts as thickened skin that is yellow-brown in color (hyperkeratosis). This thickened skin eventually progresses to full scaling, especially at the neck, lower abdomen, and underarms, groin, and back of knees (flexures). Unique to SLS is the itchy characteristic of the skin (pruritis). The second feature  Read More

The severe form of the disease is called typical mucolipidosis IV, and the mild form is called atypical mucolipidosis IV. Approximately 95 percent of individuals diagnosed with this condition have the severe form. The symptoms and physical findings associated with mucolipidosis IV are usually apparent within three to eight months following birth. The first recognized symptoms are usually clouding (opacity) of the cornea and eye movemen  Read More

The first sign of Sjögren-Larsson syndrome is often preterm birth. Apparent at birth, the ichthyosis associated with SLS often starts as thickened skin that is yellow-brown in color (hyperkeratosis). This thickened skin eventually progresses to full scaling, especially at the neck, lower abdomen, and underarms, groin, and back of knees (flexures). Unique to SLS is the itchy characteristic of the skin (pruritis). The second feature  Read More

The precise cause for Ito hypomelanosis is unknown.Genetic mosaicism and spontaneous gene mutations are linked to several occurrences.The term "genetic mosaicism" refers to people who established two separate cell lines in their bodies as a result of a gene mutation that happened during embryonic development. •Chromosome discrepancies exist between the two cell lines (chromosomal mosaicism).  Read More

Kabuki syndrome is a rare, multisystem disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature. A wide variety of additional symptoms affecting multiple different organ systems can potentially occur. The specific symptoms associated with Kabuki syndrome can vary greatly from one person to another. The exact cause  Read More