Rosaï-Dorfman disease
Synonyms: Sinus histiocytosis with massive lymphadenopathy · Destombes-Rosaï-Dorfman disease · Rosaï-Dorfman-Destombes disease · SHML
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adolescent, Adult
- Status
- active
A rare non-Langerhans cell histiocytosis characterized by infiltration of lymph nodes or extranodal tissues by non-malignant histiocytes displaying emperipolesis, a non-destructive phagocytosis of lymphocytes or erythrocytes. Most typical presentation is as a massive cervical lymphadenopathy in adolescents and young adults. Most frequent sites of extranodal disease are skin, soft tissue, bones, paranasal sinuses, orbit, salivary glands, and central nervous system. Symptoms are related to mass effect in the affected organs.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rosaï-Dorfman disease | Sinus histiocytosis with massive lymphadenopathy · Destombes-Rosaï-Dorfman disease · Rosaï-Dorfman-Destombes disease · SHML |
| fr | Maladie de Rosaï-Dorfman | HSLM · Histiocytose sinusale avec lymphadénopathie massive · Maladie de Destombes-Rosaï-Dorfman · Maladie de Rosaï-Dorfman-Destombes · SHML |
| de | Rosaï-Dorfman-Krankheit | Destombes-Rosaï-Dorfman-Krankheit · Rosaï-Dorfman-Destombes-Krankheit · SHML · Sinushistiozytose mit massiver Lymphadenopathie |
| es | Enfermedad de Rosaï-Dorfman | Enfermedad de Destombes-Rosaï-Dorfman · Enfermedad de Rosaï-Dorfman-Destombes · Histiocitosis sinusal con linfadenopatía masiva · SHML |
| it | Malattia di Rosaï-Dorfman | Istiocitosi sinusale con linfoadenopatia massiva · Malattia di Destombes-Rosaï-Dorfman · Malattia di Rosaï-Dorfman-Destombes · SHML |
| nl | Ziekte van Rosaï-Dorfman | SHML · Sinushistiocytose met massieve lymfadenopathie · Ziekte van Destombes-Rosaï-Dorfman · Ziekte van Rosaï-Dorfman-Destombes |
| pt | Histiocitose sinusal com linfadenopatia maciça | |
| pl | Choroba Rosaï i Dorfmana | Choroba Destombesa, Rosaï i Dorfmana · choroba Rosaï, Dorfmana i Destombesa · Histiocytoza zatokowa z masywną limfadenopatią · SHML |
| cs | Rosaïova-Dorfmanova choroba | Destombova-Rosaïova-Dorfmanova choroba · Rosaïova-Dorfmanova-Destombova choroba · SHML · Sinusová histiocytóza s masivní lymfadenopatií · Rosaï-Dorfmanova choroba · Destombes-Rosaï-Dorfmanova choroba · Rosaï-Dorfman-Destombova choroba |
| uk | Хвороба Розаї-Дорфмана | Хвороба Дестомба-Розаї-Дорфмана · Хвороба Розаї-Дорфмана-Дестомба · SHML · Синусний гістіоцитоз з масивною лімфаденопатією |
| zh | Rosa´-Dorfman 疾病 | 窦组织细胞增生症伴大量淋巴结病变 |
| tr | Rosa´-Dorfman hastalığı | SHML · Destombes-Rosaï-Dorfman hastalığı · Rosaï-Dorfman-Destombes hastalığı · Masif lenfadenopatili sinüs histiyositozu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D76.3 | NTBT | inclusion | validated |
| ICD-11 | EK92 | NTBT | index | validated |
| MONDO | 0006412 | E | validated | |
| MeSH | D015618 | E | validated | |
| UMLS | C5848165 | E | validated | |
| GARD | 7588 | E | validated | |
| MedDRA | 10063397 | 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:157987Non-Langerhans cell histiocytosis
rare skin diseases; rare systemic and rheumatological 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 |
|---|---|---|---|---|---|---|
| Cases/families | 1000 cases | Worldwide | Case(s) | Validated | 21816647[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001903 | Anemia | |
| HP:0002961 | Dysgammaglobulinemia | |
| HP:0001945 | Fever | |
| HP:0002716 | Lymphadenopathy | |
| Occasional (29-5%) | ||
| HP:0010783 | Erythema | |
| HP:0002315 | Headache | |
| HP:0002797 | Osteolysis | |
| HP:0200034 | Papule | |
| HP:0010550 | Paraplegia | |
| HP:0003401 | Paresthesia | |
| HP:0001250 | Seizure | |
| HP:0001482 | Subcutaneous nodule | |
Run the differential on the 4 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/158014
- This record as JSON: /data/d/158014.json