A newborn presents with severe generalized skin fragility and blistering immediately after birth. Electron microscopy shows absent anchoring fibrils at the dermoepidermal junction. Immunofluorescence mapping shows absent type VII collagen. The most likely diagnosis and its inheritance pattern are:

• A Epidermolysis bullosa simplex (EBS) — KRT5/KRT14 mutations, autosomal dominant
• B Junctional EB (JEB) — LAMA3/LAMB3 laminin-332 mutations, autosomal recessive
• C Kindler EB — FERMT1 (kindlin-1) mutation, autosomal recessive
• D Dystrophic EB (DEB) — COL7A1 type VII collagen mutation, autosomal dominant or recessive ✓

Explanation

Absence of type VII collagen (encoded by COL7A1) with absent anchoring fibrils on EM indicates dystrophic epidermolysis bullosa (DEB). The blister forms below the lamina densa (dermolytic). Dominant DEB (DDEB) presents with localized lesions; Recessive DEB (RDEB) is severe with generalized blistering, milia, scarring, and risk of SCC. EBS has intraepidermal blistering with KRT5/14 mutations (normal anchoring fibrils). JEB has lamina lucida blistering with absent laminin-332 or BP180. Kindler EB (now re-classified) shows mixed levels of blistering.

Reference: Neena Khanna Illustrated Synopsis of Dermatology & STD, 6th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.