PENS syndrome

PENS syndrome is a rare genetic condition that affects both the skin and the nervous system. People with this condition have distinctive skin changes, with small, white to yellowish bumps and plaques that have a gem-like appearance and a rough surface. These skin features are usually found on the trunk and upper limbs and appear in varied shapes and sizes. In addition, individuals with PENS syndrome may experience neurological challenges such as delayed psychomotor development, epilepsy, speech and language difficulties, and attention problems. Other reported features include clumsiness, dyslexia, and eye abnormalities, though the extent of these symptoms can vary among affected people.

Common symptoms include the presence of small, keratotic papules and plaques on the skin, which have a gem-like look and a rough texture. Neurological symptoms may include psychomotor delay, epilepsy, difficulties with speech and language, and attention deficit-hyperactivity issues. Additional concerns such as clumsiness, dyslexia, and various eye problems have also been reported.

PENS syndrome is known to be a genetic condition affecting the skin and nervous system. While it is clearly linked to genetic factors, specific genes or detailed genetic causes have not been identified. More information on the exact genetic mechanisms is currently limited.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition.