TY - JOUR
T1 - Epidermal nevi and localized cranial defects
AU - Ho, Nicola
AU - Roig, Carmen
AU - Diadori, Paula
PY - 1999/3/19
Y1 - 1999/3/19
N2 - We report on a girl with a congenital pigmented hairy nevus of the scalp, epidermal nevi of the right temple, and localized cranial defects. We have not found other reported cases of giant pigmented hairy nevus of the scalp occurring with absence of underlying cranial bone. We speculate that the localized cranial defects are undergrowth anomalies representative of a paracrinopathy from the overlying nevus or simultaneous bone/skin dysplasia, the former having been resorbed. In the absence of a familial history of epidermal nevi and/or seizures, our patient represents a sporadic case, perhaps a somatic mutation.
AB - We report on a girl with a congenital pigmented hairy nevus of the scalp, epidermal nevi of the right temple, and localized cranial defects. We have not found other reported cases of giant pigmented hairy nevus of the scalp occurring with absence of underlying cranial bone. We speculate that the localized cranial defects are undergrowth anomalies representative of a paracrinopathy from the overlying nevus or simultaneous bone/skin dysplasia, the former having been resorbed. In the absence of a familial history of epidermal nevi and/or seizures, our patient represents a sporadic case, perhaps a somatic mutation.
KW - Epidermal nevi
KW - Giant hairy pigmented nevi
KW - Localized cranial defects
UR - http://www.scopus.com/inward/record.url?scp=0033583080&partnerID=8YFLogxK
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U2 - 10.1002/(SICI)1096-8628(19990319)83:3<187::AID-AJMG8>3.0.CO;2-W
DO - 10.1002/(SICI)1096-8628(19990319)83:3<187::AID-AJMG8>3.0.CO;2-W
M3 - Article
C2 - 10096594
AN - SCOPUS:0033583080
SN - 0148-7299
VL - 83
SP - 187
EP - 190
JO - American journal of medical genetics
JF - American journal of medical genetics
IS - 3
ER -