Ostalo
Epidermal Nevous in Association with Some Uncommon Manifestations
Nima Rezaei
Sažetak
Epidermal nevus syndrome (ENS) is a rare disorder, characterized with congenital epidermal nevi in association with several abnormalities in different organs.
Herein, an infant with EN is presented who suffered from various manifestations, including aplasia cutis congenital, congenital hemangioma, ambiguous genitalia, mislocated anus, and growth retardation. Skin biopsy showed dysmorphic folliculosebaceous apparatus in the dermis and hypertrichosis, compatible with organoid nevus. No mutations were found in FGFR3, PIK3CA, NRAS, HRAS and KRAS genes.
Although the diagnosis of ENS is made for the patient, association of some rare manifestations could suggest either presence of mutation in an unknown gene or an undefined syndrome with manifestations resembling ENS.
Ključne riječi
Hrčak ID:
116003
URI
Datum izdavanja:
13.1.2014.
Posjeta: 879 *