Maculopapular cutaneous mastocytosis

General Information (adopted from Orphanet):

Synonyms, Signs: MASTOCYTOSIS URTICARIA PIGMENTOSA, INCLUDED
Urticaria pigmentosa
Number of Symptoms 23
OrphanetNr: 79457
OMIM Id: 154800
ICD-10: Q82.2
UMLs: C0042111
MeSH: D014582
MedDRA: 10046752
Snomed: 78745000

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Cutaneous mastocytosis
 -Rare allergic disease
 -Rare hematologic disease
 -Rare oncologic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000246) Sinusitis Frequent [Orphanet] 73 / 7739
2
 (HPO:0002315) Headache Frequent [Orphanet] 175 / 7739
3
 (HPO:0002017) Nausea and vomiting Frequent [Orphanet] 134 / 7739
4
 (HPO:0002014) Diarrhea Frequent [Orphanet] 225 / 7739
5
 (HPO:0000989) Pruritus Very frequent [Orphanet] 111 / 7739
6
 (HPO:0010783) Erythema 138 / 7739
7
 (HPO:0001034) Hypermelanotic macule 22 / 7739
8
 (HPO:0007583) Telangiectasia macularis eruptiva perstans 2 / 7739
9
 (HPO:0001000) Abnormality of skin pigmentation Very frequent [Orphanet] 105 / 7739
10
 (HPO:0100585) Telangiectasia of the skin Occasional [Orphanet] 66 / 7739
11
 (HPO:0001025) Urticaria 73 / 7739
12
 (HPO:0001031) Subcutaneous lipoma Very frequent [Orphanet] 112 / 7739
13
 (HPO:0001695) Cardiac arrest Frequent [Orphanet] 87 / 7739
14
 (HPO:0100495) Mastocytosis Very frequent [Orphanet] 14 / 7739
15
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
16
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
17
 (OMIM) Bullous mastocytosis 2 / 7739
18
 (MedDRA:10025421) Macule Very frequent [Orphanet] 55 / 7739
19
 (HPO:0200151) Cutaneous mastocytosis 2 / 7739
20
 (MedDRA:10046752) Urticaria pigmentosa 3 / 7739
21
 (OMIM) Cutaneous mastocytosis 3 / 7739
22
 (OMIM) Hyperpigmented macules or papules showing erythema or edema on trauma 2 / 7739
23
 (HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The cutaneous manifestation is termed urticaria pigmentosa. Generalized involvement, which may be fatal, is sometimes observed. Burgoon et al. (1968) observed the disorder in father and daughter. Selmanowitz et al. (1970) described cutaneous mastocytosis in 8 females in ...
Molecular genetics OMIM Rosbotham et al. (1999) identified 3 sibs with urticaria pigmentosa. They pointed out that sporadic nonfamilial cases of urticaria pigmentosa had been related to mutations in the KIT gene (164920). Using 7 microsatellite repeat markers spanning an 8-cM ...