TY - JOUR
T1 - Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma
T2 - Molecular testing as a helpful diagnostic tool for Netherton syndrome
AU - Sprecher, E.
AU - Tesfaye-Kedjela, A.
AU - Ratajczak, P.
AU - Bergman, R.
AU - Richard, G.
PY - 2004/9
Y1 - 2004/9
N2 - The congenital erythrodermas represent a heterogeneous group of inherited and acquired disorders often accompanied by systemic infections, impaired epidermal barrier function and concomitant life-threatening fluid and electrolyte imbalance. In the present report, we describe a patient who was considered to have congenital ichthyosiform erythroderma for 26 years until molecular testing led to the correct diagnosis of Netherton syndrome.
AB - The congenital erythrodermas represent a heterogeneous group of inherited and acquired disorders often accompanied by systemic infections, impaired epidermal barrier function and concomitant life-threatening fluid and electrolyte imbalance. In the present report, we describe a patient who was considered to have congenital ichthyosiform erythroderma for 26 years until molecular testing led to the correct diagnosis of Netherton syndrome.
UR - http://www.scopus.com/inward/record.url?scp=4644343851&partnerID=8YFLogxK
U2 - 10.1111/j.1365-2230.2004.01589.x
DO - 10.1111/j.1365-2230.2004.01589.x
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C2 - 15347338
AN - SCOPUS:4644343851
SN - 0307-6938
VL - 29
SP - 513
EP - 517
JO - Clinical and Experimental Dermatology
JF - Clinical and Experimental Dermatology
IS - 5
ER -