Table 1.
Clinical description of the present case and its comparison with patients affected with EBS-MD and alopecia
| Epidermolysis bullosa simplex with muscular dystrophy | ||||
|---|---|---|---|---|
| Diffuse alopecia | Partial scarring alopecia | |||
| Features | Present case | Yin J et al. [10] | Shimizu H et al. [11] | Shimizu H et al. [11] |
| PLEC gene mutations | ||||
| -status | Homozygous | Compound heterozygous | Compound heterozygous | Compound heterozygous |
| -exons | 31 | 31 | 24 and 31 | 31 and 32 |
| -DNA and protein level | c.7159G > T (p.Gln2387*) |
c.4924C > T (p.Gln1642*) |
c.3157C > T (p.Gln1053*) |
c.7261C > T (p.Arg2421*) |
| c.7159G > T (p.Gln2387*) |
c.6955C > T (p.Arg2319*) |
c.5806C > T (p.Gln1936*) |
c.12578_12581dup (p.Tyr4195fs) |
|
| General clinical data | ||||
| Age (years) | 28 | 25 | 9 | 33 |
| Gender | F | F | M | M |
| Consanguinity | Present | Present | Present | Absent |
| Pregnancy | Full term/ Uneventful | Full term/ Uneventful | NA | NA |
| Skin involvement | ||||
| -skin blistering age onset | Neonatal | Neonatal | Birth | Neonatal |
| -skin blistering evolution | Diminished with age | Diminished with age | NA | Augmented every summer |
| -nail | Present | Present | Present | Present |
| -teeth | Present | Present | Present | Present |
| -focal plantar keratodermy | Absent | Absent | Absent | Absent |
| Muscle involvement | ||||
| -age onset | Adolescence | Adolescence | Infancy | Infancy |
| -evolution | Muscle atrophy 28y unable to perform activities of daily living | Muscle atrophy 20y unable to walk long distances or climb stairs | Major difficulties in walking at 9y | Muscle atrophy 20y unable to walk |
| Mucosa involvement | ||||
| -oral mucosal blistering | Present | Absent | Present | Present |
| -hoarsness | Present | Present (adolescence) | NA | NA |
| -laryngeal web | ND | NA | NA | NA |
| -urethral stricture | Absent | NA | Present | NA |
| Recurrent infections | ||||
| Upper respiratory tract (childhood) | Present | NA | NA | NA |
NA Not available, ND Not determined