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Aplasia cutis congenita - intestinal lymphangiectasia is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.
Features include: Abnormal bleeding tendency (abnormal bleeding), Intestinal lymphangiectasia, Hypoproteinemia, and Generalized edema and 3 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 1 | Abnormal bleeding tendency (abnormal bleeding) |
Biomarker and diagnostic research for aplasia cutis congenita-intestinal lymphangiectasia syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for aplasia cutis congenita-intestinal lymphangiectasia syndrome.
128 publications have been identified in PubMed for aplasia cutis congenita-intestinal lymphangiectasia syndrome. Research spans Review / Meta-Analysis (55%), Basic Science / Preclinical (20%), and Case Report / Case Series (8%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 71 | 55% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:48 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
1 |
Intestinal lymphangiectasia |
Laboratory research |
25 |
20% |
Patient case studies | 10 | 8% |
Clinical study results | 6 | 5% |
Disease patterns and progression | 6 | 5% |
Other research | 4 | 3% |
Testing and diagnosis research | 4 | 3% |
New treatment approaches | 2 | 2% |
Anderson EN (2026). [PMID: 41468891](https://pubmed.ncbi.nlm.nih.gov/41468891/). *American journal of human genetics*. [Basic Science / Preclinical]
Sebode M (2026). [PMID: 41432137](https://pubmed.ncbi.nlm.nih.gov/41432137/). *Current opinion in gastroenterology*. [Review / Meta-Analysis]
Buel KL (2026). [PMID: 41569909](https://pubmed.ncbi.nlm.nih.gov/41569909/). *FP Essent*. [Review / Meta-Analysis]
Amado C (2026). [PMID: 40975490](https://pubmed.ncbi.nlm.nih.gov/40975490/). *Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology*. [Case Report / Case Series]
Ali SB (2025). [PMID: 40561878](https://pubmed.ncbi.nlm.nih.gov/40561878/). *Current research in translational medicine*. [Basic Science / Preclinical]
Soodhana D (2025). [PMID: 40416472](https://pubmed.ncbi.nlm.nih.gov/40416472/). *Journal of the ASEAN Federation of Endocrine Societies*. [Review / Meta-Analysis]
Sakuma H (2025). [PMID: 39143740](https://pubmed.ncbi.nlm.nih.gov/39143740/). *Developmental medicine and child neurology*. [Diagnostic / Biomarker]
Gobble MRS (2025). [PMID: 40128490](https://pubmed.ncbi.nlm.nih.gov/40128490/). *Current diabetes reports*. [Review / Meta-Analysis]
Bertoli-Avella AM (2025). [PMID: 40413033](https://pubmed.ncbi.nlm.nih.gov/40413033/). *Journal of medical genetics*. [Basic Science / Preclinical]
Patel NM (2025). [PMID: 41101800](https://pubmed.ncbi.nlm.nih.gov/41101800/). *Facial plastic surgery clinics of North America*. [Review / Meta-Analysis]
AI-curated news mentioning aplasia cutis congenita-intestinal lymphangiectasia syndrome
Updated Aug 17, 2026
A systematic review of literature on aplasia cutis congenita with fetus papyraceus (Frieden classification Type V) has been conducted, covering cases from 1990 to 2025. The review proposes revised diagnostic criteria and a management algorithm to improve clinical outcomes.