Hyperkeratosis lenticularis perstans
Synonyms: Flegel disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adult
- Status
- active
A rare skin disease characterized by usually asymptomatic, hyperkeratotic, reddish-brown papules primarily located on the lower extremities. Histological examination shows lamellar hyperkeratosis with abrupt peripheral basket-weave orthokeratosis, irregular acanthosis, and underlying lichenoid lymphocytic infiltrate. The condition may be sporadic or familial.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyperkeratosis lenticularis perstans | Flegel disease |
| fr | Hyperkératose lenticulaire persistante | Maladie de Flegel |
| de | Hyperkeratosis lenticularis perstans | Morbus Flegel |
| es | Hiperqueratosis lenticularis persistans | Enfermedad de Flegel |
| it | Ipercheratosi lenticolare persistente | Malattia di Flegel |
| nl | Hyperkeratosis lenticularis perstans | Ziekte van Flegel |
| pt | Hiperqueratose lenticular persistente | Doença de Flegel |
| pl | Hiperkeratoza soczewkowata trwała | Choroba Flegela |
| cs | Hyperkeratosis lenticularis perstans | Flegelova choroba |
| uk | Стійкий лентикулярний гіперкератоз | Хвороба Флегеля |
| zh | 持久性豆状角化过度症 | Flegel病 |
| tr | Hiperkeratoz lenticularis perstans | Flegel hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 144150 | E | validated | |
| ICD-10 | L98.8 | NTBT | attributed | validated |
| ICD-11 | ED5Y | NTBT | index | validated |
| MONDO | 0007756 | E | validated | |
| MeSH | C538377 | E | validated | |
| UMLS | C0263420 | E | validated | |
| GARD | 2824 | E | validated | |
| MedDRA | 10071311 | 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:79359Other epidermal disorder
rare skin diseases - ORPHA:79360Other genetic epidermal disease
rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007570 | Hyperkeratosis lenticularis perstans | |
| HP:0200034 | Papule | |
| Frequent (79-30%) | ||
| HP:0000989 | Pruritus | |
| HP:0200042 | Skin ulcer | |
| Occasional (29-5%) | ||
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0002671 | Basal cell carcinoma | |
| HP:0002860 | Squamous cell carcinoma | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/409
- This record as JSON: /data/d/409.json