TY - JOUR
T1 - Buschke-Ollendorff syndrome
T2 - Report of a case and interpretation of the clinical phenotype as a type 2 segmental manifestation of an autosomal dominant skin disease
AU - Ehrig, Torsten
AU - Cockerell, Clay J.
PY - 2003/12
Y1 - 2003/12
N2 - Buschke-Ollendorff syndrome is a rare, autosomal dominant disease consisting of osteopoikilosis and skin manifestations. A case is reported, and the literature is reviewed with special reference to the clinical distribution patterns of skin lesions. The 2 main types of skin manifestations in this entity are widely disseminated, symmetrically distributed papules and localized, asymmetrically distributed plaques. Both types of lesions have been observed within the same family or within the same person. This particular phenotype can be explained by type 2 segmental manifestation of autosomal dominant cutaneous trait: Symmetrically distributed papules are a manifestation of the heterozygous state acquired by inheritance, and asymmetrically distributed plaques develop in areas that have undergone a somatic mutational event of the wild-type allele at an early developmental stage, the result being loss of heterozygosity.
AB - Buschke-Ollendorff syndrome is a rare, autosomal dominant disease consisting of osteopoikilosis and skin manifestations. A case is reported, and the literature is reviewed with special reference to the clinical distribution patterns of skin lesions. The 2 main types of skin manifestations in this entity are widely disseminated, symmetrically distributed papules and localized, asymmetrically distributed plaques. Both types of lesions have been observed within the same family or within the same person. This particular phenotype can be explained by type 2 segmental manifestation of autosomal dominant cutaneous trait: Symmetrically distributed papules are a manifestation of the heterozygous state acquired by inheritance, and asymmetrically distributed plaques develop in areas that have undergone a somatic mutational event of the wild-type allele at an early developmental stage, the result being loss of heterozygosity.
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U2 - 10.1016/S0190-9622(03)00481-X
DO - 10.1016/S0190-9622(03)00481-X
M3 - Article
C2 - 14639409
AN - SCOPUS:0345293221
SN - 0190-9622
VL - 49
SP - 1163
EP - 1166
JO - Journal of the American Academy of Dermatology
JF - Journal of the American Academy of Dermatology
IS - 6
ER -