Atrophoderma vermiculata
Synonyms: Folliculitis ulerythematosa reticulate
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive, Unknown
- Age of onset
- Childhood
- Status
- active
A rare genetic skin disease characterized by childhood onset of follicular keratotic papules slowly progressing to characteristic ''honeycomb'' atrophy on the cheeks, preauricular area, and forehead. Less frequently, the condition may affect also the upper lip, ears, or limbs. Additional features include facial erythema, milia, and follicular plugs.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Atrophoderma vermiculata | Folliculitis ulerythematosa reticulate |
| fr | Atrophodermie vermiculée | Folliculite ulérythémateuse réticulée |
| de | Atrophodermia vermiculata | Folliculitis ulerythematosa reticulata |
| es | Atrofodermia vermiculada | Foliculitis uleritematosa reticulada |
| it | Atrofia cutanea vermicolare | Follicolite uleritematosa reticolata |
| nl | Atrophoderma vermiculata | Folliculitis ulerythematosa reticulata |
| pt | Atrofodermia vermiculada | Foliculite uleritematosa reticulada |
| pl | Robakowaty zanik skóry | Rogowacenie zapalne mieszków włosowych siatkowate |
| cs | Atrophoderma vermiculata | = en |
| uk | Атрофодерма вермикулярна | Сітчастий уртикарний висипний фолікуліт |
| zh | 虫蚀状皮肤萎缩 | 网状红瘢性毛囊炎 |
| tr | Atrofoderma vermikülata | Folikülit ülerythematosa retikülat |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 209700 | E | validated | |
| OMIM | 604093 | NTBT | validated | |
| ICD-10 | L66.4 | NTBT | index | validated |
| ICD-11 | ED56 | NTBT | index | validated |
| MONDO | 0008849 | E | validated | |
| UMLS | C0263429 | E | validated | |
| GARD | 9744 | 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 (1):
- ORPHA:498Keratosis pilaris atrophicans
rare genetic diseases; rare skin diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LRP1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6692 | ENSG00000123384 | 107770 | 12q13.3 | LDL receptor related protein 1 | 26142438[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
17 annotations · validated 2021-09-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011124 | Abnormality of epidermal morphology | |
| HP:0004426 | Abnormality of the cheek | |
| HP:0001075 | Atrophic scars | |
| HP:0007515 | Hypoplastic pilosebaceous units | |
| HP:0100276 | Skin pit | |
| Frequent (79-30%) | ||
| HP:0000306 | Abnormality of the chin | |
| HP:0007502 | Follicular hyperkeratosis | |
| HP:0045059 | Hyperkeratotic papule | |
| HP:0100277 | Periauricular skin pits | |
| Occasional (29-5%) | ||
| HP:0000290 | Abnormality of the forehead | |
| HP:0000464 | Abnormality of the neck | |
| HP:0000708 | Atypical behavior | |
| HP:0010783 | Erythema | |
| HP:0012722 | Heart block | |
| HP:0001067 | Neurofibromas | |
| HP:0012531 | Pain | |
| HP:0000989 | Pruritus | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 29386852[PMID]_29386852[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79100
- This record as JSON: /data/d/79100.json