Cutaneous manifestations in trisomy 13 mosaicism: A rare case and review of the literature.
Trisomy 13 mosaicism is a rare genetic disorder affecting a small minority of all trisomy 13 cases. It occurs when two cell populations that are karyotypically different are present in the same individual and are derived from a single zygote. As a rule, the phenotype is mitigated to a less dysmorphic appearance and longer survival, making genetic counseling a difficult task. Capillary hemangiomas are a common feature of full trisomy 13, seen in 27-56% of all cases. We report on an 18-months-old girl with extensive cutaneous anomalies, mild dysmorphic features, and slight psychomotor delay, without structural defects and provide an up-to-date review of all cases of trisomy 13 mosaicism with skin involvement. To our knowledge, this is the second clinical report of a patient with trisomy 13 mosaicism with hemangiomas and port wine stains, but no structural defects. © 2015 Wiley Periodicals, Inc.
Department of Obstetrics and Gynecology, Paracelsus Medical University, Salzburg, Austria.
Iris
I
Wieser
Department of Obstetrics and Gynecology, Paracelsus Medical University, Salzburg, Austria.
Christoph
C
Wohlmuth
Department for Clinical Genetics, Paracelsus Medical University, Salzburg, Austria.
Olaf
O
Rittinger
Department of Obstetrics and Gynecology, Paracelsus Medical University, Salzburg, Austria.
Thorsten
T
Fischer
Department of Obstetrics and Gynecology, Paracelsus Medical University, Salzburg, Austria.
Dagmar
D
Wertaschnigg
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D005260:Female; D005817:Genetic Counseling; D018324:Hemangioma, Capillary / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D059785:Karyotype; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D011597:Psychomotor Performance; D012867:Skin / Q000378:metabolism / Q000473:pathology*; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D000073839:Trisomy 13 Syndrome; D015053:Zygote
cutaneous manifestation; cutaneous vascular anomaly; hemangioma; trisomy 13; trisomy 13 mosaicism