Bronspiegel-Zelnick Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q84.8 | Other specified congenital malformations of the integument - aplasia cutis congenita |
| I89.0 | Lymphedema, not elsewhere classified, including: lymphangiectasia |
| ICD-10 online (WHO version 2019) | |
The Bronspiegel-Zelnick syndrome , Synonym: aplasia cutis congenita, autosomal recessive (ACC) is a rare congenital disease with a combination of aplasia cutis congenita and intestinal Lymphangiectasia .
The name refers to the first authors of the first description from 1985 by the doctors N. Bronspiegel and N. Zelnick and colleagues.
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive . The syndrome has been described in two patients so far, the cause is unknown.
Clinical manifestations
Clinical criteria are:
- Skin defect, mostly on the vertex
- increasing edema
- Hypoproteinemia and lymphopenia
diagnosis
The diagnosis results from the clinical findings on the skin and the evidence of lymphangiectasia, see there.
Individual evidence
- ↑ a b c Aplasia cutis congenita with intestinal lymphangiectasia. In: Orphanet (Rare Disease Database).
- ↑ N. Bronspiegel, N. Zelnick, H. Rabinowitz, TC Iancu: Aplasia cutis congenita and intestinal lymphangiectasia. An unusual association. In: American journal of diseases of children. Vol. 139, No. 5, May 1985, pp. 509-513, PMID 3984978 .
