Vohwinkel syndrome, ichthyosiform variant--by Camisa--case report

Area of Science:

• Dermatology
• Medical Genetics

Background:

• Vohwinkel syndrome (keratoderma hereditaria mutilans) is a rare autosomal dominant palmoplantar keratosis.
• It is associated with mutations in the loricrin and Connexin 26 genes.

Observation:

• Patients exhibit palmoplantar hyperkeratosis, constricting digital bands (often on the fifth digit), and dorsal starfish-shaped hyperkeratosis.
• Constricting bands can lead to auto-amputation (pseudo-ainhum), predominantly affecting white women.

Findings:

• The authors present a rare case of Vohwinkel syndrome with an ichthyosiform variant.
• This highlights the phenotypic variability within this rare genetic disorder.

Implications:

• This case expands the known clinical spectrum of Vohwinkel syndrome.
• Further research into genetic variations and clinical presentations is warranted for improved diagnosis and management.