Keratoma hereditaria mutilans (Vohwinkel). Differentiating features of conditions with constriction of digits

Connexin 26 (GJB2) Mutations in Two Swedish Patients with Atypical Vohwinkel (Mutilating Keratoderma plus Deafness) and KID Syndrome Both Extensively Treated with Acitretin

“…The symptoms and histopathological findings in the two investigated patients were more or less characteristic for VS and KID syndrome, respectively. However, whereas previously published cases of VS seem to have had severe symptoms from either the skin or the inner ear (7,(10)(11)(12)(13)(14). our case 1 has both a mutilating keratoderma (eventually leading to SCC) combined with generalized ichthyosis, artda complete congenital deafness.…”

Clinical and Genetic Studies of 3 Large, Consanguineous, Algerian Families With Mal de Meleda

“…Vohwinkel syndrome is a diffuse mutilating keratoderma, characterized by ainhum, which leads to mutilations and exhibits some other associated features, such as deafness. 17 Mutations for the classic form of Vohwinkel syndrome (MIM 124500) have been identified in connexin 26, 18 whereas a molecular defect in loricrin 19 is considered to be responsible for the Vohwinkel keratoderma variant with ichthyosis (MIM 604117). Sometimes MdM may be confused with these 2 forms of erythrokeratoderma in which PPK may be present.…”

Vohwinkel syndrome with mental retardation

“…Some associated features have been noted and include alopecia, hearing loss, spastic paraplegia, myopathy, ichthyosiform dermatoses, and nail abnormalities. [1][2][3] Recent molecular biological studies indicate the presence of two variants of Vohwinkel syndrome, an (1) ichthyosis-associated variant, associated with an insertional mutation of the loricrin gene, and a (2) deafness-associated variant, associated with a missense mutation of the connexin-26 gene. [2,4] Two siblings, aged 18 years and 12 years, born out of second degree consanguineous marriage with severe growth retardation presented with severe trans gradient honey comb like PPK with digitate projections over the normal skin.…”

“…Linear hyperkeratosis may also be observed on the elbows and knees. [1][2][3] Histopathological features of this syndrome include hyperkeratosis, parakeratosis, acanthosis and hypergranulosis.…”