Variant of Vohwinkel's syndrome.

Keratoderma hereditaria mutilans (Vohwinkel's syndrome): a trial of isotretinoin.

An 8-year-old girl with the classic findings of keratoderma hereditaria mutilans (Vohwinkel's syndrome) was seen. Treatment with isotretinoin was instituted to decrease the hyperkeratosis and to prevent further autoamputation. After a 12-week course at 2 mg per kg per day, the patient had only minimal decrease in the amount of hyperkeratosis. Because of the well-known long-term risks of systema...

Vitamin D Receptor TaqI Gene Variant in Exon 9 and Polycystic Ovary Syndrome Risk

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.

The multiplicity of functions served by intercellular gap junctions is reflected by the variety of phenotypes caused by mutations in the connexins of which they are composed. Mutations in the connexin26 (Cx26) gene ( GJB2 ) at 13q11-q13 are a major cause of autosomal recessive hearing loss (DFNB1), but have also been reported in autosomal dominant deafness (DFNA3). We now report a Cx26 mutation...

A case report of variant scimitar syndrome

Background: Scimitar syndrome (SS) or congenital pulmonary venolobar syndrome is a rare anomaly, most commonly including partial pulmonary venous drainage into the inferior vena cava, right lung hypoplasia, dextroposition of the heart, and anomalous systemic arterial supply from aorta or one of its branches to the right lung. Case report: A 10-day-old female infant was referred to our hospital...

Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report

Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations...