Epidermolysis bullosa simplex with mottled pigmentation.
Epidermolysis bullosa is a rare disorder with several variants. Included in this disorder is epidermolysis bullosa with mottled pigmentation (EBS-MP). We report a case of a young child with this rare disorder and explain the genetic cause.
Division of Dermatology and Cutaneous Surgery, The University of Texas Health Science Center at San Antonio, USA.
John C
JC
Browning
Brooke
B
Mohr
D002648:Child; D016110:Epidermolysis Bullosa Simplex / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D053555:Keratin-5 / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010859:Pigmentation Disorders / Q000150:complications / Q000175:diagnosis / Q000235:genetics*
C503940:KRT5 protein, human; D053555:Keratin-5