Autosomal recessive epidermolysis bullosa simplex. A case report.
We report a male child with autosomal recessive epidermolysis bullosa simplex presenting at birth. The patient subsequently developed cutaneous atrophy, nail dystrophy, milia and alopecia. He had growth retardation and anaemia, but there were no other associated abnormalities. Electron microscopy showed epidermolytic cleavage. The family history indicated an autosomal recessive mode of inheritance.
Abanmi
A
A
Riyadh Armed Forces Hospital, Saudi Arabia.
Joshi
R K
RK
Atukorala
D N
DN
Pedersen
N B
NB
Khamis
O A
OA
D003241:Consanguinity; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics* / Q000473:pathology; D005148:Facial Dermatoses / Q000235:genetics / Q000473:pathology; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009260:Nail Diseases / Q000473:pathology