Systematized organoid epidermal nevus with eccrine differentiation, multiple facial and oral congenital scars, gingival synechiae, and blepharophimosis: a novel epidermal nevus syndrome.
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 genetic mosaicism 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.
Castori
Marco
M
Medical Genetics, Department of Experimental Medicine, "Sapienza" University, San Camillo-Forlanini Hospital, Circ. ne Gianicolense, 87, I-00152 Rome, Italy. mcastori@scamilloforlanini.rm.it
Annessi
Giorgio
G
Castiglia
Daniele
D
Buffa
Vitaliano
V
Paradisi
Andrea
A
Cascone
Piero
P
Zambruno
Giovanna
G
Grammatico
Paola
P
Paradisi
Mauro
M
D000328:Adult; D016569:Blepharophimosis / Q000473:pathology*; D002921:Cicatrix / Q000151:congenital*; D004439:Eccrine Glands / Q000473:pathology*; D005260:Female; D005881:Gingiva / Q000002:abnormalities*; D006801:Humans; D009506:Nevus; D013577:Syndrome; D014057:Tomography, X-Ray Computed