Integument
- Congenital skin defects and skin fragility. Congenital skin defects manifest as absence of skin on the extremities, mainly on hands and feet, as a constant feature described in all patients. Healing occurs with hypopigmentation and atrophic scarring. Skin fragility manifest with generalized blistering and improves in adulthood.
- Nail dystrophy. Nails are initially fragile and become dystrophic and thickened with age (onychogryphosis).
- Hair loss.Diffuse irreversible loss (alopecia) of the scalp hair occurs in adulthood. Body hair is also progressively lost.
- Plantar keratoderma. Diffuse plantar keratoderma may develop in adulthood.
Cardiac
- Dilated cardiomyopathy- Three independent studies reported the occurrence of dilated cardiomyopathy in young adults with EBS-KLHL24. The spectrum of cardiac manifestations associated with KLHL24 pathogenic variants remains to be established.
Other features
- Relative short stature and/or poor weight gain.
- Cognitive development and speech may be delayed. Of note, one individual had seizures, which could be an incidental association.