A 17-year-old female with @entity29260 was examined because of visual acuity loss in her right eye. Ocular examination revealed @entity4354 , iris, choroid and optic disc @entity735 . There were several erthematous and hyperpigmented areas on the body. Magnetic resonance (MR) imaging of the orbits and brain demonstrated right @entity1781 and diffuse cortical and @entity76 . Skeletal manifestations were @entity851 , @entity1635 , syndactyly, @entity7731 , and @entity49517 striata. @entity4500 included @entity2651 , @entity245 , and @entity3232 . There were multiple @entity75 on the lids and perioral skin and the nose was asymmetric. Her mental development was apparently normal. She had left bifid ureter and renal pelvis, scant hair on the pubic and genital region, and poor breast development. Histopathologic examination of the biopsy taken from a characteristic @entity272 revealed @entity536 , @entity2150 , and subcutaneous fat close to epidermis. Immunofluorescence staining was negative for IgG, IgM, IgA, C3, C4, fibrin, and albumin. Ultrastructural examination showed that no viral particles were present. Prometaphase chromosome analysis revealed a normal 46, XX female karyotype. Cortical and @entity76 can occur in a @entity1 with @entity29260 .

Focal XXXX ( @entity29260 ).

@entity1 :: ('9606', 'Species') :: ['patient'] @entity851 :: ('MESH:D006130', 'Disease') :: ['short stature'] @entity2651 :: ('MESH:D000848', 'Disease') :: ['hypodontia'] @entity75 :: ('MESH:D001927', 'Disease') :: ['papillomatous lesions'] @entity2150 :: ('MESH:D000741', 'Disease') :: ['hypoplastic dermis'] @entity245 :: ('MESH:D002658', 'Disease') :: ['developmental defects'] @entity1635 :: ('MESH:D012600', 'Disease') :: ['scoliosis'] @entity49517 :: ('MESH:C536053', 'Disease') :: ['osteopathia'] @entity7731 :: ('MESH:C536852', 'Disease') :: ['clinodactyly'] @entity3232 :: ('MESH:D008310', 'Disease') :: ['malocclusion'] @entity735 :: ('MESH:D005124', 'Disease') :: ['coloboma in the right eye'] @entity536 :: ('MESH:C538265', 'Disease') :: ['attenuated epidermis'] @entity1781 :: ('MESH:D009901', 'Disease') :: ['optic nerve hypoplasia'] @entity76 :: ('MESH:D002526', 'Disease') :: ['cerebellar atrophy'] @entity272 :: ('MESH:D012871', 'Disease') :: ['skin lesion'] @entity4500 :: ('MESH:D014071', 'Disease') :: ['Dental defects'] @entity4354 :: ('MESH:C538287', 'Disease') :: ['microcornea'] @entity29260 :: ('MESH:D005489', 'Disease') :: ["Goltz's syndrome"]
@entity29260 :: (MESH:D005489,Disease) :: ['dermal hypoplasia']
