Abstract
Phacomatosis cesioflammea is characterized by the co-existence of a large nevus cesius (i.e., aberrant Mongolian spot, or nevus fuscocoeruleus) and an extensive nevus flammeus (i.e., port-wine stain). This sporadic genetic skin disorder represents a particular type of phacomatosis pigmentovascularis, a group of disorders that may reflect twin spotting. We report on a 28-year-old woman with aberrant Mongolian spots, bilateral melanosis bulbi, and systematized nevus flammeus partly intermingled with nevus anemicus. Moreover, pronounced lipohypoplasia of the right buttock and thigh as well as hypoplasia of the right breast are present. This anomaly of fatty tissue has not previously been reported in phacomatosis cesioflammea and further expands the clinical spectrum of this mosaic disorder. The patchy distribution of lipohypoplasia and its spatial relationship with vascular lesions strongly support the hypothesis of a postzygotic recombination event.
| Original language | English |
|---|---|
| Pages (from-to) | 492-495 |
| Number of pages | 4 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 146 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Feb 15 2008 |
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Keywords
- Adipose tissue
- Didymosis
- Mosaicism
- Phacomatosis pigmentovascularis
- Stenosis of renal artery
- Twin spotting
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Phacomatosis cesioflammea with unilateral lipohypoplasia. / Castori, Marco; Rinaldi, Rosanna; Angelo, Corrado; Zambruno, Giovanna; Grammatico, Paola; Happle, Rudolf.
In: American Journal of Medical Genetics, Part A, Vol. 146, No. 4, 15.02.2008, p. 492-495.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Phacomatosis cesioflammea with unilateral lipohypoplasia
AU - Castori, Marco
AU - Rinaldi, Rosanna
AU - Angelo, Corrado
AU - Zambruno, Giovanna
AU - Grammatico, Paola
AU - Happle, Rudolf
PY - 2008/2/15
Y1 - 2008/2/15
N2 - Phacomatosis cesioflammea is characterized by the co-existence of a large nevus cesius (i.e., aberrant Mongolian spot, or nevus fuscocoeruleus) and an extensive nevus flammeus (i.e., port-wine stain). This sporadic genetic skin disorder represents a particular type of phacomatosis pigmentovascularis, a group of disorders that may reflect twin spotting. We report on a 28-year-old woman with aberrant Mongolian spots, bilateral melanosis bulbi, and systematized nevus flammeus partly intermingled with nevus anemicus. Moreover, pronounced lipohypoplasia of the right buttock and thigh as well as hypoplasia of the right breast are present. This anomaly of fatty tissue has not previously been reported in phacomatosis cesioflammea and further expands the clinical spectrum of this mosaic disorder. The patchy distribution of lipohypoplasia and its spatial relationship with vascular lesions strongly support the hypothesis of a postzygotic recombination event.
AB - Phacomatosis cesioflammea is characterized by the co-existence of a large nevus cesius (i.e., aberrant Mongolian spot, or nevus fuscocoeruleus) and an extensive nevus flammeus (i.e., port-wine stain). This sporadic genetic skin disorder represents a particular type of phacomatosis pigmentovascularis, a group of disorders that may reflect twin spotting. We report on a 28-year-old woman with aberrant Mongolian spots, bilateral melanosis bulbi, and systematized nevus flammeus partly intermingled with nevus anemicus. Moreover, pronounced lipohypoplasia of the right buttock and thigh as well as hypoplasia of the right breast are present. This anomaly of fatty tissue has not previously been reported in phacomatosis cesioflammea and further expands the clinical spectrum of this mosaic disorder. The patchy distribution of lipohypoplasia and its spatial relationship with vascular lesions strongly support the hypothesis of a postzygotic recombination event.
KW - Adipose tissue
KW - Didymosis
KW - Mosaicism
KW - Phacomatosis pigmentovascularis
KW - Stenosis of renal artery
KW - Twin spotting
UR - http://www.scopus.com/inward/record.url?scp=38849202548&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=38849202548&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.32165
DO - 10.1002/ajmg.a.32165
M3 - Article
C2 - 18203153
AN - SCOPUS:38849202548
VL - 146
SP - 492
EP - 495
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 4
ER -