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Published on: October 14, 2013
[Pseudo-ainhum in Vohwinkel disease. Keratoma hereditarium mutilans]
1Universitäts-Hautklinik Mainz.
Insights
This case study presents a rare genetic disorder, Vohwinkel
Area of Science:
- Dermatology
- Genetics
- Otolaryngology
Background:
- Vohwinkel's disease, a rare disorder of keratinization, is characterized by progressive palmoplantar keratosis.
- While often inherited in an autosomal dominant pattern, sporadic cases occur.
Observation:
- An 11-year-old boy presented with diffuse keratosis since infancy, affecting palms, soles, and dorsa of hands/feet.
- He developed high-tone hearing loss at age 6 and an ainhum-like constricting band on his left fifth digit at age 10.
Findings:
- The patient's symptoms strongly indicate Vohwinkel's disease (mutilating keratoma).
- This constellation of palmoplantar keratosis, hearing impairment, and constricting bands is characteristic.
Implications:
- Early recognition of Vohwinkel's disease is crucial for managing progressive symptoms.
- Oral retinoid therapy may be considered if constricting bands threaten spontaneous amputation.
Abstract:
An 11-year-old Turkish boy who has suffered from palmoplantar keratosis since his first year of life is presented. He is the only one of a large family to be affected. The diffuse keratosis extends to the back of the hands and feet and still has a progressive course. At the age of 6 he developed a symmetric high-tone acoustic impairment and at 10, an ainhum-like constricting band around the fifth digit of the left hand. This constellation of symptoms is highly characteristic for mutilating keratoma (Vohwinkel's disease), which is a rare disorder of keratinization. The majority of cases in the literature have had an autosomal dominant pattern of inheritance, although sporadic cases like this have also been reported as well. If constricting band proceeds to the point where spontaneous amputation seems imminent, a therapy with orally administered retinoids should be considered.
