Intermediate epidermolysis bullosa simplex with cardiomyopathy
Synonyms: Intermediate EBS with cardiomyopathy
A rare inherited epidermolysis bullosa characterized by aplasia cutis congenita on the extremities leaving behind hypopigmentation and atrophy in a whirled pattern. Generalized blistering persists during childhood and heals with cutaneous and follicular atrophy linear and stellate scars and hypopigmentation. Skin fragility decreases with adulthood. Adult patients exhibit dyspigmentation and atrophy of the skin scars follicular atrophoderma sparse body hair progressive diffuse alopecia of the scalp diffuse palmoplantar keratoderma and nail changes. Dilative cardiomyopathy with heart failure complicates the disease course in young adulthood or later and may have lethal outcome. Ultra-structurally intraepidermal splitting appears at the level of the basal keratinocytes above the hemidesmosomes.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Intermediate epidermolysis bullosa simplex with cardiomyopathy?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
DEBRA International
Empower people with EB and their support networks, advocates, healthcare professionals, researchers, and industry with the knowledge and tools they need to better the lives of those with epidermolysis bullosa (EB) worldwide.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.