Table 1.
Patient characteristics
| Patient | Type | Age of onset | Cutaneous involvement | Systemic involvement |
|---|---|---|---|---|
| 1* | Sporadic | 40 years | Progressive | Marrow, spleen, liver, lymph nodes |
| 2 | Sporadic | 56 years | Progressive | Marrow with fibrosis, spleen, liver, gastrointestinal |
| 3 | Sporadic | 20 years | Progressive | Marrow with fibrosis |
| 4 | Sporadic | 27 years | Slowly progressive (10 years)† | None |
| 5 | Sporadic | 25 years | Persistent (11 years) | None |
| 6 | Sporadic | 49 years | Persistent (10 years) | None |
| 7 | Sporadic | 41 years | Persistent (11 years) | None |
| 8 | Sporadic | 33 years | Persistent (3 years) | None |
| 9 | Sporadic | 35 years | Persistent (10 years) | None |
| 10 | Sporadic | 12 years | Slowly progressive (15 years)†‡ | None |
| 11 | Sporadic | 34 years | Persistent | None |
| 12 | Sporadic | 6 months | Progressive§ | Marrow, spleen |
| 13 | Sporadic | Birth | Massive diffuse cutaneous | Liver, spleen, (clinically) |
| 14 | Sporadic | 1 week | Cutaneous papules, nodules, and plaques | None |
| 15 | Sporadic | 2 years | Progressive¶ | None |
| 16 | Sporadic | 6 months | Transient‖ | None |
| 17 | Sporadic | 11 months | Transient‖ | None |
| 18 | Sporadic | 5 months | Transient‖ | None |
| 19 | Sporadic | 1 year | Transient‖ | None |
| 20 | Sporadic | 3 months | Transient‖ | None |
| 21 | Sporadic | 18 months | Transient‖ | None |
| 22 | Sporadic | 6 months | Transient‖ | None |
| 23 | Familial | 2 week | Persistent** | None |
| 24 | Familial | <6 months | Persistent** | None |
| 25 | Familial | 6 months | Persistent | None |
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.