Table 1

Patient characteristics

PatientTypeAge of onsetCutaneous involvementSystemic involvement
1*Sporadic40 yearsProgressiveMarrow, spleen, liver, lymph nodes
2Sporadic56 yearsProgressiveMarrow with fibrosis, spleen, liver, gastrointestinal
3Sporadic20 yearsProgressiveMarrow with fibrosis
4Sporadic27 yearsSlowly progressive (10 years)None
5Sporadic25 yearsPersistent (11 years)None
6Sporadic49 yearsPersistent (10 years)None
7Sporadic41 yearsPersistent (11 years)None
8Sporadic33 yearsPersistent (3 years)None
9Sporadic35 yearsPersistent (10 years)None
10Sporadic12 yearsSlowly progressive (15 years)None
11Sporadic34 yearsPersistentNone
12Sporadic6 monthsProgressive§Marrow, spleen
13SporadicBirthMassive diffuse cutaneousLiver, spleen, (clinically)
14Sporadic1 weekCutaneous papules, nodules, and plaquesNone
15Sporadic2 yearsProgressiveNone
16Sporadic6 monthsTransientNone
17Sporadic11 monthsTransientNone
18Sporadic5 monthsTransientNone
19Sporadic1 yearTransientNone
20Sporadic3 monthsTransientNone
21Sporadic18 monthsTransientNone
22Sporadic6 monthsTransientNone
23Familial2 weekPersistent**None
24Familial<6 monthsPersistent**None
25Familial6 monthsPersistentNone
  • * Previously reported limited sequencing (4). 

  • Slowly progressive cases have shown urticaria pigmentosa type lesions that significantly increased over 10 or more years, without systemic involvement. Persistent cases have similar lesions but have remained stable. 

  • This patient also could be classified as a late case of pediatric onset (age 12) (Table 3, Group 1c). 

  • § This patient had a history of infantile onset and was referred for study as an adult. 

  • Slightly later onset than usual, this child has continued to develop lesions over 4 years and shows an adult type mutation. 

  • Patients presenting to primary care physician/dermatologist with typical childhood urticaria pigmentosa, assumed to be transient (as are most cases). Average follow-up 2 years, range 6 months to 4 years. 

  • ** Patients 23, 24, and 25 are now 4, 21, and 41 years old, respectively, and still have disease.