9 - 60 - INHERITED EPIDERMOLYSIS BULLOSA

Question 1

• Onset in infancy is common with seasonal blistering (summer) on the acral areas.
• Small hemorrhagic and serous blisters occur primarily on the extremities.
• Healing occurs without scarring.

Answer 1

Epidermolysis Bullosa Simplex of Ogna

Question 2

These patients also show a characteristic onychogryphosis of the great toenails

Answer 2

Epidermolysis Bullosa Simplex of Ogna

Question 3

• This rare clinical entity is an autosomal recessive disorder that consists of generalized blistering of the skin at birth or shortly thereafter.
• This is accompanied by a progressive muscular dystrophy.
• It presents with generalized blistering similar to generalized intermediate EBS. These patients have been shown to harbor mutations in the gene coding for HD1/plectin

Answer 3

Epidermolysis Bullosa Simplex with Muscular Dystrophy

Question 4

• characterized by mottled hyperpigmentation of the trunk and proximal extremities
• There is blistering in a generalized distribution beginning at birth or early infancy.
• Pigmentary alterations and blistering may improve with increasing age.
• Mild oral mucosal involvement may be present in infancy.

Answer 4

Epidermolysis Bullosa Simplex with Mottled Pigmentation

Question 5

• This is an uncommon form of EBS is named after the subcorneal separation that produces the blisters in this disease.
• Erosions and crusts, rather than intact bullae, are usually seen in these patients, and heal with postinflammatory pigmentary changes.
• Despite the superficial cleavage plane, nail involvement, atrophic scarring, and milia have been observed in this disease

Answer 5

Epidermolysis Bullosa Simplex Superficialis

Question 6

• This subtype is a rare recessively inherited and lethal disorder characterized by **generalized erosions at birth. **
• As in the superficialis subtype,** blisters are not normally seen** because of the very superficial level of epidermal separation, which has been described as sheetlike.
• Nails are dystrophic.
• ** Alopecia, neonatal teeth, oral erosions, and respiratory involvement** distinguish this disorder from other superficial EBS subtypes

Answer 6

Acantholytic Epidermolysis Bullosa Simplex