Linear focal dermal elastosis

Summary

Linear focal dermal elastosis (MONDO:0016438) is a disease. A subtype of dermis disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		30	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	linear focal dermal elastosis
Mondo ID	MONDO:0016438
Orphanet	228236
UMLS	C4751166
MedGen	1666729
GARD	0020579
Is cancer (heuristic)	no

Also known as: Elastotic striae

Disease family

Classification path: disease › human disease › disease by body system or component › integumentary system disorder › skin disorder › dermis disorder › linear focal dermal elastosis

Related subtypes (27): dermis tumor, necrobiosis lipoidica, isolated anhidrosis with normal sweat glands, familial cutaneous collagenoma, elastosis perforans serpiginosa, progressive osseous heteroplasia, antecubital pterygium syndrome, familial reactive perforating collagenosis, dermochondrocorneal dystrophy, lipoid proteinosis, primary cutaneous amyloidosis, linear atrophoderma of Moulin, confetti-like macular atrophy, late-onset focal dermal elastosis, elastoderma, elastoma, papular elastorrhexis, primary anetoderma, familial anetoderma, white fibrous papulosis of the neck, mid-dermal elastolysis, lichen myxedematosus, pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa, primary cutis verticis gyrata, mixed dermis disorder, atrophoderma of Pierini and Pasini, annular erythema of infancy

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.