Oral-facial-digital syndrome type 1 (OMIM #311200) is an X-linked dominant, developmental disorder. Among the 13 described clinical variants of oral-facial-digital syndrome, oral-facial-digital syndrome type 1 is of significance to dermatologists due to presence of congenital milia and hypotrichosis, not described in other variants. Since oral-facial-digital syndrome type 1 is genetically a distinct entity, awareness of these features help to clinically delineate this from other variants.
Yellow nail syndrome (YNS) is an uncommon disorder characterized by a triad of nail dystrophy, lymphedema, and pleural effusion. It is rare in children and congenital occurrence of YNS has been very rarely described. We report a 2-year-old Arab boy having congenital yellow nail syndrome with mild facial dysmorphism and bilateral conjunctival pigmentation born to consanguineous parents. One of his older siblings had died of nonimmune fetal hydrops (NIFH). The case supports the genetic basis of yellow nail syndrome with a possible relationship to nonimmune fetal hydrops.
A total of 80 Kuwaiti children with alopecia areata (AA), without clinical evidence of thyroid disease, were screened for the presence of thyroid abnormalities, and 50 unrelated children with AA were tissue typed for human leukocyte antigen (HLA) class I and class II antigens. Thyroid abnormalities were detected in 14 children (17.5%). Among these, 11 children (14%) had thyroid autoantibodies. These observations highlight the significance of screening for thyroid abnormalities in children with chronic, recurrent, and/or extensive disease. The Kuwaiti children with AA were observed to have a significant association with HLA B21 (OR 18.850, 95% CI 4.404-80.677), B40 (OR 6.767, 95% CI 1.818-25.181), and HLA B12 (OR 4.833, 95% CI 1.198-19.505) antigens. These findings differed from those reported elsewhere.