Familial primary localized cutaneous…

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Familial primary localized cutaneous amyloidosis

ORPHA:353220Disease

Also called FPLCA

What it is

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).

Key facts

Age of onset
All ages
Inheritance
Autosomal dominant
Classified as
Disease

Recorded for the broader condition

Prevalence
1-9 / 100 000 (Taiwan, Province of China)Primary cutaneous amyloidosis

Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.

Genes

IL31RADisease-causing germline mutation(s)
OSMRDisease-causing germline mutation(s)

ICD-10 codes

E85.4+filed under a broader ICD-10 category — shared with 15 other rare diseases
L99.0*filed under a broader ICD-10 category — shared with 5 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

MONDO 0007101OMIM 105250OMIM 613955UMLS C1304242

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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