ABSTRACT
Hemimegalencephaly is a rare congenital malformation of the cortical development arising from abnormal proliferation of anomalous neuronal and glial cells. The characteristic clinical manifestations are macrocephaly, psycomotor retardation, intractable seizure and hemihypertrophy of face, body and extremities, but musculoskeletal deformities are reported only in case of epidermal nevus syndrome. We report a case of hemimegalencephaly that was associated with foot deformity, without symptoms and signs of epidermal nevus syndrome.
Subject(s)
Congenital Abnormalities , Extremities , Foot Deformities , Foot Deformities, Congenital , Megalencephaly , Malformations of Cortical Development , Neuroglia , Neurons , Nevus , Nevus, Sebaceous of Jadassohn , SeizuresABSTRACT
Restrictive dermopathy is a rare autosomal recessive disorder in which rigidity or tautness of the skin from the second trimester causes a fetal akinesia deformation sequence (FADS) and early death. Characteristic features include taut skin with prominent subcutaneous vessels, widely open fontanelles and cranial sutures, distinctive facies, flexion contractures, pulmonary hypoplasia, sparse eyelashes and and eyebrows, thin dysplastic clavicles. The histologic abnormalities of the skin are located in a thin dermis, consisting of compactly arranged collagen fibers, scanty elastic fiber. The dermoepidermal junction is flat, and epidermal appendages are absent, miniaturized or immature. The presence of adipose tissue may be increased. We report on the first Korean case of restrictive dermopathy with typical clinical features and histological findings.