Phacomatosis cesioflammea with unilateral lipohypoplasia

Marco Castori, Rosanna Rinaldi, Corrado Angelo, Giovanna Zambruno, Paola Grammatico, Rudolf Happle

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)492-495
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number4
DOIs
Publication statusPublished - Feb 15 2008

Fingerprint

Port-Wine Stain
Neurocutaneous Syndromes
Nevus
Mongolian Spot
Melanosis
Inborn Genetic Diseases
Buttocks
Thigh
Genetic Recombination
Blood Vessels
Adipose Tissue
Breast
Skin

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 journalArticle

Castori, M, Rinaldi, R, Angelo, C, Zambruno, G, Grammatico, P & Happle, R 2008, 'Phacomatosis cesioflammea with unilateral lipohypoplasia', American Journal of Medical Genetics, Part A, vol. 146, no. 4, pp. 492-495. https://doi.org/10.1002/ajmg.a.32165
Castori, Marco ; Rinaldi, Rosanna ; Angelo, Corrado ; Zambruno, Giovanna ; Grammatico, Paola ; Happle, Rudolf. / Phacomatosis cesioflammea with unilateral lipohypoplasia. In: American Journal of Medical Genetics, Part A. 2008 ; Vol. 146, No. 4. pp. 492-495.
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