Epidermolysis bullosa simplex due to plakophilin deficiency

MONDO:0011472

Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering.

Also known as: McGrath syndrome, ectodermal dysplasia-skin fragility syndrome, Mcgrath syndrome, ectodermal dysplasia - skin fragility syndrome, ectodermal dysplasia skin fragility syndrome, ectodermal dysplasia/skin fragility syndrome

1 clinical trial for this condition and its sub-types, 0 tagged with Epidermolysis bullosa simplex due to plakophilin deficiency itself.

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Where it sits in the disease tree

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Part of

↑ Ectodermal dysplasia syndrome (45) ↑ Suprabasal epidermolysis bullosa simplex (0)

Including sub-types (1) Tagged with Epidermolysis bullosa simplex due to plakophilin deficiency (0)

Completed 1

CBD oil may soothe itch in kids with rare skin disease

Symptom relief Completed

This study tested whether cannabidiol (CBD) can reduce severe itching in 10 children with a rare genetic skin condition called epidermolysis bullosa. The children took CBD syrup three times a day for a month. Researchers measured itch, pain, sleep, and quality of life before and …

Phase 2 • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Symptom relief

Last updated Jun 27, 2026 09:10 UTC

Epidermolysis bullosa simplex due to plakophilin deficiency

Where it sits in the disease tree

CBD oil may soothe itch in kids with rare skin disease