TY - JOUR
T1 - Systematized organoid epidermal nevus with eccrine differentiation, multiple facial and oral congenital scars, gingival synechiae, and blepharophimosis
T2 - A novel epidermal nevus syndrome
AU - Castori, Marco
AU - Annessi, Giorgio
AU - Castiglia, Daniele
AU - Buffa, Vitaliano
AU - Paradisi, Andrea
AU - Cascone, Piero
AU - Zambruno, Giovanna
AU - Grammatico, Paola
AU - Paradisi, Mauro
PY - 2010/1
Y1 - 2010/1
N2 - Epidermal nevus syndrome is a clinically variable and genetically heterogeneous group of mosaic conditions characterized by the concurrence of extensive epidermal nevus with additional cutaneous and extracutaneous manifestations. This term groups together well-characterized clinical entities, as well as dozens of apparently unique associations, which need further delineation. We report on a 23-year-old woman presenting the previously undescribed combination of widespread eccrine proliferation, multiple facial and oral pox-like lesions, gingival synechiae, blepharophimosis, body asymmetry, and mental retardation. The patient has a healthy monozygotic twin. The eccrine proliferation is intermingled with areas of unaffected skin with a linear/segmental distribution on the limbs. The clinical presentation of such a complex phenotype fits well with the geneticmosaicism theory. The histologic findings, consisting of proliferation of immature to well-formed eccrine duct-like structures located in the deep dermis and interspersed with an abundant fibrous stroma constituted of horizontally oriented collagen fibers, seem a possible hallmark of this condition.
AB - Epidermal nevus syndrome is a clinically variable and genetically heterogeneous group of mosaic conditions characterized by the concurrence of extensive epidermal nevus with additional cutaneous and extracutaneous manifestations. This term groups together well-characterized clinical entities, as well as dozens of apparently unique associations, which need further delineation. We report on a 23-year-old woman presenting the previously undescribed combination of widespread eccrine proliferation, multiple facial and oral pox-like lesions, gingival synechiae, blepharophimosis, body asymmetry, and mental retardation. The patient has a healthy monozygotic twin. The eccrine proliferation is intermingled with areas of unaffected skin with a linear/segmental distribution on the limbs. The clinical presentation of such a complex phenotype fits well with the geneticmosaicism theory. The histologic findings, consisting of proliferation of immature to well-formed eccrine duct-like structures located in the deep dermis and interspersed with an abundant fibrous stroma constituted of horizontally oriented collagen fibers, seem a possible hallmark of this condition.
KW - Differential diagnosis
KW - Eccrine proliferation
KW - Mental retardation
KW - Mosaicism
KW - Postzygotic mutation
KW - Skin atrophy
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U2 - 10.1002/ajmg.a.33175
DO - 10.1002/ajmg.a.33175
M3 - Article
C2 - 20034083
AN - SCOPUS:75149136077
VL - 152
SP - 25
EP - 31
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1
ER -