Vohwinkel syndrome: treatment of pseudo-ainhum.

BACKGROUND: Vohwinkel syndrome or keratoderma hereditaria mutilans is a rare autosomal dominant palmoplantar keratosis which manifests in infants and becomes more evident in adulthood. Patients with this mutation present hyperkeratosis of the palms and soles, constricting bands of the digits, usually at 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). AIM: The treatment of this keratoderma is very difficult and tends to be symptomatic: topical keratolytics and systemic retinoids have been used to treat hyperkeratosis, but without consistent results. Reconstructive surgery is utilized for the treatment of pseudo-ainhum. RESULTS AND CONCLUSION: In this study, we present an additional case of Vohwinkel syndrome in which constrictive bands of the fifth digit in the left hand were treated with a cross finger flap, with a favorable outcome after 18 months of follow-up.

[Osteopoikilosis--skin and joint manifestations]. / Osteopoikilie--Haut- und Gelenkmanifestationen.

Osteopoikilosis (Osteopathia condensans disseminata) is a rare and usually asymptomatic sclerosing bone dysplasia of unknown origin. Familial clustering suggests a dominant inheritance. The observation of a 47-year-old woman lead to differential diagnostic considerations in view of the literature on about 350 cases. For 2 years the patient has been complaining about pain and stiffness of both hands with swelling of the fingers. Additionally, she remarked about bilateral paresthesias corresponding to the sensory innervation of the median nerve. Clinical examination revealed a sensory carpal tunnel syndrome and mild synovitis of the proximal interphalangeal joints with skin induration and limited flexion of the fingers. In addition, some finger and toe nails showed pitting and most fingers had scar-like linear skin alterations. Radiologic findings showed symmetric, well-defined, homogeneous sclerosing areas in spongy bone. The combination of symmetrical sclerosing bone densities, hereditary character, and associated skin and joint manifestations suggests the existence of a general connective tissue disease.