Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and e...
Comprehensive, easy-to-understand information about this condition
How we create this content →Inheritance patterns describe how genetic conditions are passed from parents to children.
Inheritance patterns describe how genetic conditions are passed from parents to children.
The limited documentation surrounding aplasia cutis congenita is largely due to its rarity, affecting only 1-5 in 10,000 individuals. This rarity results in fewer systematic clinical studies and a lack of comprehensive data on clinical features and outcomes. Additionally, the genetic basis was only recently identified, which means that clinical characterization is still ongoing.
To navigate your care effectively, consider seeking a dermatologist with expertise in congenital skin disorders. Additionally, genetic counseling can provide valuable insights into the implications of the BMS1 gene variant for you and your family. While there are no specific patient organizations identified for ACC, you can find resources through the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. Participating in clinical trials may also provide access to cutting-edge research and treatment options.
Currently, there are 14 active clinical trials related to aplasia cutis congenita. These trials are exploring various aspects of the condition, although no orphan drugs have been designated for ACC. For more information on ongoing research, you can visit ClinicalTrials.gov and search for 'aplasia cutis congenita'. This research offers hope for better understanding and management of the condition.
Actionable guidance for navigating care for aplasia cutis congenita
To navigate your care effectively, consider seeking a dermatologist with expertise in congenital skin disorders. Additionally, genetic counseling can provide valuable insights into the implications of the BMS1 gene variant for you and your family. While there are no specific patient organizations identified for ACC, you can find resources through the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. Participating in clinical trials may also provide access to cutting-edge research and treatment options.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Inheritance patterns describe how genetic conditions are passed from parents to children.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 31, 2026
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.