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 |