[J Pediatr Ophthalmol Strabismus. 2018;55:e26-e29.]. [ncbi.nlm.nih.gov]

He was re-evaluated at age 17 and demonstrated significant ptosis, ophthalmoparesis, and pharyngeal muscle weakness. He had predominant proximal muscle weakness with the inability to raise arms against gravity. [ncbi.nlm.nih.gov]

He had predominant proximal muscle weakness with the inability to raise arms against gravity. He was ambulatory for short distances but lost the ability to rise from the floor at 14 years. [ncbi.nlm.nih.gov]

The 1649delG allele of K5 can also result in EBS-Migr, and this too is characterized by the appearance of hyper- or hypopigmented skin patches in adults ( 76 ). [dx.doi.org]

Those with EBS may have thickened calluses on the palms and soles, oral blistering during infancy and rough, thickened fingernails/toenails. EBS does not usually scar. There are rare recessive forms. [rarediseases.org]

University Hospital, Angers, France. [ncbi.nlm.nih.gov]

University Hospital, Angers, France References Fine JD, Bruckner-Tuderman L, Eady RA, Bauer EA, Bauer JW, Has C, et al. [ojrd.biomedcentral.com]

We found abundant CD4 and CD8 T lymphocytes infiltrating the papillary dermis and lining the dermal-epidermal junction. A number of these cells expressed the activation marker CD69. [ncbi.nlm.nih.gov]

We found abundant CD4 and CD8 T lymphocytes infiltrating the papillary dermis and lining the dermal–epidermal junction. A number of these cells expressed the activation marker CD69. [dx.doi.org]