Vohwinkel syndrome, ichthyosiform variant - by Camisa - Case report

Abstract

Vohwinkel syndrome or keratoderma hereditaria mutilans is a rare autosomal dominant palmoplantar keratosis, which manifests in infants and becomes more evident in adulthood. Its mode of inheritance is autosomal dominant with mutation in loricrin and Connexin 26 genes. Patients with this mutation present hyperkeratosis of the palms and soles, constricting bands of the digits, usually on the fifth, and starfish-shaped hyperkeratosis on the dorsal aspects of the hands and feet. The disease mostly occurs in white women, where constricting fibrous bands appear on the digits and can lead to progressive strangulation and auto-amputation (pseudo-ainhum).The authors report a rare case of a patient with a clinical ichthyosiform variant of Vohwinkel syndrome.

A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome

“…Light microscopy revealed orthokeratotic hyperkeratosis with parakeratosis, hypogranulosis and psoriasiform hyperplasia. Similar nonspecific features have been described not only in Huriez syndrome, but also in different kinds of PPK, such as Olmsted syndrome and Vohwinkel syndrome 3 22 23 . Therefore, the histopathologic finding was inconclusive.…”

Vohwinkel syndrome: ichthyosiform variant in a family

“…1 The ichthyotic variant, which is associated with a mutation in the loricrin gene and results in defective formation of the stratum corneum, is characterized by generalized ichthyosis and palmoplantar hyperkeratosis, as observed in our patient. 2 , 4 , 5 Starfish-shaped keratotic papules and deafness are not observed in this variant. 1 , 4 The variant with sensorineural hearing loss occurs due to a mutation in the connexin 26 gene (GJB2 gene) and presents with starfish-shaped keratotic papules and palmoplantar hyperkeratosis.…”

Two novel mutations in the LOR gene in three families with loricrin keratoderma

“…Patient 4 belongs to the third out of five generations which are affected with LK. 12 We found two novel heterozygous mutations in exon 2 of the LOR gene, c.646_647insGCAGCAGGTC, p.Gln216Argfs*123 in patient 1 and c.798_799dupT, p.Gly267Trpfs*69 in patients 2, 3 and 4. Both mutations lead to a frameshift and an elongated loricrin protein because of delayed termination.…”

“…Skin biopsy revealed hyperkeratosis with orthokeratosis and parakeratosis. Patient 4 belongs to the third out of five generations which are affected with LK …”