PENS syndrome

Orpha code: 313936OMIM code:

Definition

PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported.

Disease data
Classification

Disease

Synonyms
Papular epidermal nevi with skyline basal cell layers syndrome
Zespół grudkowego znamienia naskórkowego z "skyline" warstwą komórek podstawnych
ORPHA code
313936
OMIM code
-
ICD10 code
-
ICD11 code
-

No additional description.

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