Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.
Zlotogora-Ogur syndrome is a congenital disorder characterized by:
- Sparse and twisted hair (pili torti)
- Absent or sparse eyebrows
- Dry skin
- Palmoplantar keratoderma
- Abnormal teeth (delayed eruption, microdontia/hypodontia, and anodontia in adults)
- Cutaneous syndactyly (fingers and toes) and transverse crease on the palms
- Facial dysmorphism (protruding and malformed ears, micrognathia, bilateral cleft lip and palate)
Additional features may be observed, including
- intellectual disability
- hypoplastic lacrimal puncta
- nipple anomalies
- genitourinary abnormalities (hypoplastic scrotum and presence of the testes in the inguinal canal)
- lumbar lordosis
This syndrome is genetically transmitted through a recessive autosomal mode (it is necessary that both parents present the abnormality so that the descendant is affected).
Zlotogora-Ogur syndrome is caused by mutations in the gene PVRL1 (11q23-q24) which encodes nectin-1, the principal receptor used by alpha-herpesviruses to mediate entry into human cells. Although the mechanism underlying the physiopathology of Zlotogora-Ogur syndrome is still unknown, it has been proposed that nectin-1 is a cell-cell adhesion molecule that is preferentially expressed in keratinocytes and that mutations in PVRL1 may abrogate NAP (nectin, afadin, ponsin)-dependent cell-cell adhesion.
The treatment of Zlotogora syndrome is directed toward the specific symptoms that are apparent in each affected individual.
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