VOHWINKEL SYNDROME

Course overview

VOHWINKEL SYNDROME, ALSO KNOWN AS KERATODERMA HEREDITARIAN MUTILANS, IS A RARE AND COMPLEX GENETIC DISORDER. THIS CONDITION PRIMARILY AFFECTS THE SKIN, RESULTING IN PALMOPLANTAR KERATODERMA, CHARACTERIZED BY THICKENED SKIN ON THE PALMS AND SOLES. THE KERATODERMA OFTEN FORMS A STAR-LIKE PATTERN ON THE KNUCKLES. INDIVIDUALS WITH VOHWINKEL SYNDROME MAY EXPERIENCE PSEUDOAINHUM, A CONSTRICTION OF THE FINGERS OR TOES, WHICH CAN ULTIMATELY LEAD TO AUTOAMPUTATION OF THE AFFECTED DIGITS. HEARING IMPAIRMENT IS ANOTHER SIGNIFICANT ASPECT OF THE SYNDROME, WITH COCHLEAR INVOLVEMENT OFTEN REQUIRING AUDIOLOGICAL ASSESSMENT AND POSSIBLE COCHLEAR IMPLANTATION FOR MANAGEMENT. THIS ACTIVITY REVIEWS THE GENETIC BASIS, CLINICAL MANIFESTATIONS, AND TREATMENT OF VOHWINKEL SYNDROME PATIENTS AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN IMPROVING CARE FOR AFFECTED PATIENTS.