Nevus comedonicus syndrome

Orpha code: 64754OMIM code: 617025

Definicja

A rare, syndromic nevus characterized by the association of typically unilateral, closely arranged, linear, slightly elevated, multiple, nevus comedonicus lesions located usually on the face, neck, trunk or limbs (with or without a central, dark, firm, hyperkeratotic plug and secondary acneiform lesions) with extracutaneous ocular, skeletal, and/or central nervous system abnormalities, such as ipsilateral cataract, corneal erosion, poly-/syndactyly, absent fifth finger, scoliosis, vertebral defects, corpus callosum agenesis, seizures, interhemispheric cyst, intellectual deficiency, and/or developmental delay.

Disease data
Klasyfikacja

Disease

Kod ORPHA
64754
Kod OMIM
617025
Kod ICD10
Q82.5
Kod ICD11
LD2D.Y

No additional description.

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