## 3 Results  
### Clinical Phenotypes  
A 4-year-old boy (V-2) from Family A had a history of abnormal blister formation on the skin, erosions, and atypical scarring with erythemata hyperkeratotic papule, and keloids affecting his trunk, arms, hands, feet, elbows, knees and genitalia. He had nail dystrophy, small nails and anonymchia (Figure 2(Aa,c)). His mother gives a history of fragile erythematous blistering skin since birth, which does not improve with time. He also has fusion-induced mitten abnormalities of the hands and toes, as well as joint contractures, palmoplantar keratoderma, oral mucosal blisters with feeding difficulties, hypoplasia of dental enamel, carious teeth, pseudo syndactyly, and growth delay. There is the history of frequent inflammation of the eyes, skin, gastrointestinal and respiratory systems. The proband (V-1) in Family B demonstrates abnormal generalized blistering of the skin and extensive scarring of the whole body. Opening of the mouth is restricted along with ankyloglossia and feeding difficulties. The limbs show nail dystrophy in form of onychomadesis and onycholysis, atrophic scarring, malia, pseudo syndactyly and restriction of movement due to flexion contracture of joints. Other findings include corneal and conjunctivl blistering, anemia, constipation, muscle pains, growth delay, and chronic infections of the respiratory, gastrointestinal, and urogenital systems (Figure 2(Ba-f)). A 13-year-old girl (V-2) in Family C, shows typical features of DEB, including abnormal blistering of the skin, erosions, and atypical scarring with erythemata hyperkeratotic papule and keloids of the skin affecting the trunk and extremities, showing no improvement with advancing age. She has nail dystrophy, along with mitten deformities of phalanges, joint contractures, severe blistering of the oral mucosa and esophageal strictures, causing swallowing and feeding difficulties. She also faces severe anemia, growth delay, frequent corneal and conjunctivl erosions, symblepharon, anterior plebbaritis, exposure keratitis, and conjunctivl complications along with other organ system infections (Figure 2(Ca-d)). Figure 2: (**A**) Clinical phenotypes of epidermolysis Bullosa in “**Family A”. Patient V-2 shows classical representation of Recessive Dystrophic EB, generalized severe type with abnormal blistering of the skin, erosions and atypical scarring with erythemata hyperkeratotic papule and keloids affecting his trunk, arms, hands, feet, elbows, knees and genitalia (**Aa–c**), nail dystrophy, anonymchia (**a**), fusion-induced mitten abnormalities of the hands and toes, joint contractures, pseudo syndactyly and growth delay (**Aa–c**). (**B**) Clinical phenotypes of epidermolysis Bullosa in “**Family B”. The two affected Patients V-1 and V-4 from “Family B” present cardinal signs of recessive dystrophic EB, generalized severe type with abnormal generalized blistering of the skin and extensive scarring of the whole body (**Ba–f**), with thin and spares scalp hairs (**Bf**), nail dystrophy and onycholysis (**Bc,d**), atrophic scarring, malia (**Ba,b,c,f**), pseudo syndactyly and flexion contracture of joints (**Ba,c,d,e**). (**C**) Clinical phenotypes of epidermolysis Bullosa in “**Family C”. A 13-year-old girl (V-2) in family C shows typical features of DEB, including abnormal blistering of the skin, erosions and atypical scarring with erythemata hyperkeratotic papule and keloids of skin affecting trunk and extremities (**Cb,c,d**). She has nail dystrophy, joint contractures, severe blistering of oral mucosa and esophageal strictures causing swallowing and feeding difficulties. She also faces severe anemia, growth delay, frequent corneal and conjunctivl erosions, symblepharon and, exposure keratitis (**Ca**).