PENS syndrome
Synonyms: Papular epidermal nevi with skyline basal cell layers syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
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 ophthalmological abnormalities have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PENS syndrome | Papular epidermal nevi with skyline basal cell layers syndrome |
| fr | Syndrome PENS | Syndrome de naevus épidermiques papulaires avec couche basale en palissade |
| de | PENS-Syndrom | Papuläre epidermale Nävi mit 'Skyline'-Basalzellenschicht-Syndrom |
| es | Síndrome PENS | Síndrome de nevo epidérmico papuloso con capas de células basales 'en horizonte' |
| it | Sindrome PENS | Sindrome da nevi epidermici papulari con strati di cellule basali a palizzata |
| nl | PENS-syndroom | Syndroom met papulaire epidermale naevi met skyline basaalcellagen |
| pt | Síndrome PENS | Síndrome de nevo epidérmico papuloso com camadas de células basais ''no horizonte'' |
| pl | Zespół PENS | Zespół grudkowego znamienia naskórkowego z "skyline" warstwą komórek podstawnych |
| cs | PENS syndrom | = en |
| uk | Синдром PENS | Папульозні епідермальні невуси з синдромом базально-клітинного шару епідермісу |
| zh | PENS综合征 | 丘疹性表皮痣伴“天际线”样基底细胞层综合征 |
| tr | PENS sendromu | Skyline bazal hücre tabakaları sendromu ile seyreden papüler epidermal nevüs |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q82.5 | NTBT | attributed | validated |
| ICD-11 | LC00.Y | NTBT | attributed | validated |
| MONDO | 0017785 | E | validated | |
| UMLS | C4749916 | E | validated | |
| GARD | 13447 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:622914Rare genetic nevus
rare genetic diseases - ORPHA:294057Rare nevus
rare skin diseases; rare neoplastic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 22414678[PMID]_21315481[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/313936
- This record as JSON: /data/d/313936.json