Information on Poikiloderma with neutropenia
Name: Poikiloderma with neutropenia | Acronym:
Alt. names:
Gene: USB1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2010
Last updated on: 2023-02-28 16:41:18 by
Description
Antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial. Individuals may also be at risk for leukemia and related processes. Refs. PMIDs: 18925663; 20004881; 20503306
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Neutropenia |
19 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Infantile onset |
9 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Poikiloderma |
9 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Elevated circulating creatine kinase concentration |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 5 | Increased circulating lactate dehydrogenase concentration |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 6 | Midface retrusion |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 7 | Splenomegaly |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 8 | Recurrent otitis media |
4 (66.7%) | 0 (0.0%) | 2 (33.3%) |
| 9 | Recurrent pneumonia |
4 (66.7%) | 0 (0.0%) | 2 (33.3%) |
| 10 | Recurrent sinusitis |
4 (66.7%) | 0 (0.0%) | 2 (33.3%) |
| 11 | short stature |
4 (66.7%) | 0 (0.0%) | 2 (33.3%) |
| 12 | Carious teeth |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Leukopenia |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Nasolacrimal duct obstruction |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Palmoplantar keratoderma |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Plantar hyperkeratosis |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 17 | Recurrent bronchopulmonary infections |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 18 | Skin rash |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 19 | Hypertelorism |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 20 | Joint hypermobility |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 21 | Sparse lateral eyebrow |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 22 | Depressed nasal bridge |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 23 | Dermal atrophy |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 24 | edema |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 25 | Frontal bossing |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 26 | Growth delay |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 27 | Hyperkeratosis |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 28 | Joint stiffness |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 29 | Long philtrum |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 30 | Low posterior hairline |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 31 | Micrognathia |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 32 | Nail dystrophy |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 33 | Reticular hyperpigmentation |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 34 | Retrognathia |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 35 | Short nose |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 36 | Sparse eyebrow |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 37 | Telangiectasia |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 38 | Underdeveloped nasal alae |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
Age of onset
distribution
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).