Aplasia cutis congenita-intestinal lymphangiectasia syndrome

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Aplasia cutis congenita-intestinal lymphangiectasia syndrome
Specialty Medical genetics
Symptoms A combination of aplasia cutis congenita and lymphangiectasia
Complications Death
Usual onsetBirth
Preventionnone
Prognosis Bad
Frequencyvery rare, only two cases have been described in medical literature
Deaths-

Aplasia cutis congenita-intestinal lymphangiectasia syndrome is a very rare genetic disorder which is characterized by aplasia cutis congenita, intestinal lymphangiectasia-induced generalized edema, hypoproteinemia, and lymphopenia. [1] [2] It has been described in two Ashkenazi Jewish brothers. [3] [4]

References

  1. ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Aplasia cutis congenita intestinal lymphangiectasia syndrome". www.orpha.net. Retrieved 2022-06-12.{{cite web}}: CS1 maint: numeric names: authors list (link)
  2. ↑ "Aplasia cutis congenita intestinal lymphangiectasia - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Archived from the original on December 15, 2016. Retrieved 2022-06-12.
  3. ↑ Bronspiegel, N.; Zelnick, N.; Rabinowitz, H.; Iancu, T. C. (1985-05-01). "Aplasia cutis congenita and intestinal lymphangiectasia. An unusual association". American Journal of Diseases of Children. 139 (5): 509–513. doi:10.1001/archpedi.1985.02140070083042. ISSN   0002-922X. PMID   3984978.
  4. ↑ "OMIM Entry - 207731 - APLASIA CUTIS CONGENITA WITH INTESTINAL LYMPHANGIECTASIA". omim.org. Retrieved 2022-06-12.
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