Table I.
Poikiloderma with Neutropenia (PN) Patient Information
| Patient # | Family # | Gender | Age at ascertainment | Ethnicity | Clinical Features | C16orf57 Allele 1 Mutation | C16orf57 Allele 2 Mutation |
|---|---|---|---|---|---|---|---|
| 1 | 1 | F | 12 y | 100% Navajo | Neutropenia; poikiloderma*; pachyonychia; recurrent OM; asthma | c.496delA | c.496delA |
| 2 | 1 | F | 15 y | 100% Navajo | Neutropenia; poikiloderma; pachyonychia; recurrent sinopulmonary infections and OM; mastoiditis; asthma | c.496delA | c.496delA |
| 3 | 2 | M | 17 mo | 100% Navajo | Rash started age 5 mo; diagnosed PN age 9 mo due to neutropenia; transient thrombocytopenia; pachyonychia; chronic cough; h/o diarrhea; normal bone marrow studies | c.496delA | c.496delA |
| 4 | 3 | F | 3 y | 100% Apache | Diagnosed PN age 3 y due to rash and neutropenia; recurrent respiratory infections | c.496delA | c.496delA |
| 5 | 4 | F | 5 y | 25% Navajo 75% Caucasian |
Rash age 4 mo; initially diagnosed with RTS age 18 mo; diagnosed with PN age 5 y due to neutropenia; pachyonychia; recurrent OM; sinopulmonary and urinary tract infections; h/o chronic diarrhea; calcinosis cutis | c.496delA | c.489_492del4 |
| 6 | 5 | F | 4 y | Turkish-British | Rash started age 3 mo; diagnosed with PN age 20 mo due to neutropenia and poikiloderma; pachyonychia; hyperkeratosis soles; cellulitis, mastoiditis; h/o mild anemia; bone marrow normal except increased myeloid precursors; received GCSF | c.541C>T/Q181X | c.541C>T/Q181X |
| 7 | 6 | M | 4 y | Scottish | Rash started age 6 mo; neutropenia since birth; transient thrombocytopenia; recurrent sinopulmonary infections; pachyonychia; chronic diarrhea; bone marrow showed delayed maturation of neutrophils | c.489_492del4 | c.693+1G>T |
| 8 | 6 | F | 4 y | Scottish | Rash started age 1 y; neutropenia since birth; recurrent sinopulmonary infections; hyperkeratosis; calcinosis cutis | c.489_492del4 | c.693+1G>T |
| 9 | 7 | F | 7 y | 6.25% Cherokee 93.75% Caucasian |
Rash started age 4 mo; diagnosed with PN age 1 y due to neutropenia; recurrent OM, bronchitis, cellulitis; pachyonychia; autoimmune thyroiditis; h/o chronic diarrhea in infancy; calcinosis cutis; received GCSF; normal bone marrow studies | c.415 C>T/Q139X | c.673 C>T/Q225X |
| 10 | 8 | M | 5 y | Asian Indian (Punjabi) | Diagnosed with PN age 2 y due to rash and neutropenia; recurrent sinopulmonary infections; positive sweat chloride tests | c.266 -1G>A | c.266 -1G>A |
| 11 | 8 | M | 13 mo | Asian Indian (Punjabi) | Starting to develop rash at time of ascertainment at age 13 mo | c.266 -1G>A | c.266 -1G>A |
M Male; F Female; y year; mo month; h/o history of; OM otitis media [Wang et al., 2003a].
*
All patients had the classic poikiloderma of PN which starts peripherally affecting the limbs first and then extending centrally to the face. This is in contrast to patients with RTS in whom the rash starts on the face and then extends to the limbs [Wang et al., 2003a].