Medicine: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 onset | Birth |
| Prevention | none |
| Prognosis | Bad |
| Frequency | very 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
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Aplasia cutis congenita intestinal lymphangiectasia syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1116.
- ↑ "Aplasia cutis congenita intestinal lymphangiectasia - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/753/aplasia-cutis-congenita-intestinal-lymphangiectasia.
- ↑ 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.
- ↑ "OMIM Entry - 207731 - APLASIA CUTIS CONGENITA WITH INTESTINAL LYMPHANGIECTASIA" (in en-us). https://omim.org/entry/207731#1.
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