Hereditary acrokeratotic poikiloderma
historical
Synonyms: Weary syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare hereditary poikiloderma characterized by infantile onset of vesicopustule formation on hands and feet and widespread eczematoid dermatitis (both spontaneously resolving during childhood), as well as gradually developing diffuse poikiloderma with striate and reticulate atrophy (excluding the face, scalp, and ears), and development of keratotic papules on hands, feet, elbows, and knees, beginning in early childhood. There have been no further descriptions in the literature since 1981.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary acrokeratotic poikiloderma | Weary syndrome |
| fr | Poïkilodermie acrokératosique congénitale | Syndrome de Weary |
| de | Poikilodermie, akrokeratotische, hereditäre | Weary-Syndrom |
| es | Poiquilodermia acroqueratósica hereditaria | Síndrome de Weary |
| it | Poichilodermia acrocheratosica ereditaria | Poichilodermia congenita con bolle, tipo Weary |
| nl | Erfelijke acrokeratotische poikilodermie | Syndroom van Weary |
| pt | Poiquilodermia acroqueratótica hereditária | Síndrome Weary |
| pl | Dziedziczna poikilodermia z akrokeratozą | Wrodzona poikilodermia z pęcherzami, typu Weary |
| cs | Dědičná akrokeratotická poikilodermie, Wearyho typ | Vrozená poikilodermie s bulami, Wearyho typ |
| uk | Спадкова акрокератотична пойкілодермія | Синдром Веарі |
| zh | 遗传性肢端角化性皮肤异色症 | Weary综合征 |
| tr | Kalıtsal akrokeratotik poikiloderma | Weary sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD2B | NTBT | index | validated |
| MONDO | 0017365 | E | validated | |
| MONDO | 17365 | E | validated | |
| UMLS | C0406556 | 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:222628Hereditary poikiloderma
rare genetic diseases; rare skin diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_4253719[PMID]_7015974[PMID] |
| Cases/families | 41 cases | Worldwide | Case(s) | Validated | 4253719[PMID]_7015974[PMID] |
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
47 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0008391 | Dystrophic fingernails | |
| HP:0001810 | Dystrophic toenail | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0010783 | Erythema | |
| HP:0000230 | Gingivitis | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0008064 | Ichthyosis | |
| HP:0007400 | Irregular hyperpigmentation | |
| HP:0008404 | Nail dystrophy | |
| HP:0200034 | Papule | |
| HP:0006323 | Premature loss of primary teeth | |
| HP:0200039 | Pustule | |
| HP:0100585 | Telangiectasia of the skin | |
| HP:0000963 | Thin skin | |
| HP:0001025 | Urticaria | |
| Frequent (79-30%) | ||
| HP:0100669 | Abnormal pigmentation of the oral mucosa | |
| HP:0000929 | Abnormal skull morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0100587 | Abnormality of the preputium | |
| HP:0010296 | Ankyloglossia | |
| HP:0000225 | Gingival bleeding | |
| HP:0000160 | Narrow mouth | |
| HP:0002745 | Oral leukoplakia | |
| HP:0000972 | Palmoplantar hyperkeratosis | |
| HP:0200042 | Skin ulcer | |
| HP:0000262 | Turricephaly | |
| HP:0000217 | Xerostomia | |
| Occasional (29-5%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0000091 | Abnormal renal tubule morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0011024 | Abnormality of the gastrointestinal tract | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0000795 | Abnormality of the urethra | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000656 | Ectropion | |
| HP:0006101 | Finger syndactyly | |
| HP:0000365 | Hearing impairment | |
| HP:0001382 | Joint hypermobility | |
| HP:0001096 | Keratoconjunctivitis | |
| HP:0007759 | Opacification of the corneal stroma | |
| HP:0010807 | Open bite | |
| HP:0004322 | Short stature | |
| HP:0002860 | Squamous cell carcinoma | |
| HP:0006740 | Transitional cell carcinoma of the bladder | |
| HP:0000211 | Trismus | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2907
- This record as JSON: /data/d/2907.json