Familial primary localized cutaneous amyloidosis
Synonyms: FPLCA
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare primary cutaneous amyloidosis characterized by familial occurrence of lichen and/or macular amyloidosis due to fibrillary degeneration and apoptosis of basal keratinocytes, followed by conversion of filamentous masses into amyloid material in the papillary dermis. Patients typically present with a pruritic eruption of grouped hyperkeratotic papules, which may coalesce to form hyperkeratotic plaques, with a predilection for the lower limbs (lichen amyloidosis), or with hyperpigmented macules, sometimes with a reticulate pattern, most commonly arising on the back, chest or interscapular areas (macular amyloidosis).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial primary localized cutaneous amyloidosis | FPLCA |
| fr | Amylose cutanée familiale isolée | = en |
| de | Familiäre primäre lokalisierte kutane Amyloidose | = en |
| es | Amiloidosis cutánea primaria familiar localizada | = en |
| it | Amiloidosi cutanea localizzata primitiva familiare | = en |
| nl | Familiale primaire gelokaliseerde cutane amyloïdose | = en |
| pt | Amiloidose cutânea localizada primária, forma familiar | |
| pl | Rodzinna pierwotna zlokalizowana amyloidoza skórna | FplCA |
| cs | Familiární primární lokalizovaná kožní amyloidóza | = en |
| uk | Сімейний первинний локалізований шкірний амілоїдоз | = en |
| zh | 家族性原发局灶性皮肤淀粉样变性 | = en |
| tr | Ailesel primer lokalize kutanöz amiloidoz | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 105250 | E | validated | |
| OMIM | 613955 | BTNT | validated | |
| ICD-10 | E85.4+ | NTBT | attributed | validated |
| ICD-10 | L99.0* | NTBT | attributed | validated |
| ICD-11 | 5D00.Y | NTBT | attributed | validated |
| MONDO | 0007101 | E | validated | |
| UMLS | C1304242 | 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:477808Other genetic dermis disorder
rare genetic diseases - ORPHA:137807Primary cutaneous amyloidosis
rare skin diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IL31RA | Disease-causing germline mutation(s) in | Assessed | HGNC:18969 | ENSG00000164509 | 609510 | 5q11.2 | interleukin 31 receptor A | 19690585[PMID] |
| OSMR | Disease-causing germline mutation(s) in | Assessed | HGNC:8507 | ENSG00000145623 | 601743 | 5p13.1 | oncostatin M receptor | 20507362[PMID] |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/353220
- This record as JSON: /data/d/353220.json