Denuded congenital lesions: recessive dystrophic epidermolysis bullosa.
Recessive dystrophic epidermolysis bullosa (Hallopeau-Siemens type) (RDEB-HS) is a rare severe mechanobullous disorder resulting from a defect in collagen VII. Patients with RDEB-HS present with generalized blistering and denudation of the skin at birth and have mucosal involvement. The repeated blistering leads to scarring, which may be deforming and result in serious complications. Transmission electron microscopy is currently the gold standard for diagnosis of RDEB-HS.
Fleming
Kristy F
KF
Department of Internal Medicine, Kaiser Permanente Los Angeles Medical Center, Los Angeles, California, USA.
Wu
Jashin J
JJ
Dyson
Senait W
SW
Dadras
Soheil S
SS
Metz
Brandie J
BJ
D000015:Abnormalities, Multiple / Q000235:genetics; D024143:Collagen Type VII / Q000235:genetics; D016108:Epidermolysis Bullosa Dystrophica / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007231:Infant, Newborn; D015603:Keratinocytes / Q000473:pathology; D008854:Microscopy, Electron; D010159:Palate / Q000002:abnormalities; D063173:Retrognathia / Q000235:genetics
D024143:Collagen Type VII