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Vohwinkel syndrome (mutilating keratoderma) associated with craniofacial anomalies
A Sensi1, V Bettoli, M R Zampino
1Istituto di Genetica Medica, Università di Ferrara-Arcispedale S. Anna, Italy.
American Journal of Medical Genetics
|April 1, 1994
Summary
Vohwinkel syndrome, a rare genetic disorder causing palmoplantar keratoderma, presented with additional congenital anomalies including cleft lip and palate in a female patient. This case highlights the complex and variable presentation of this condition.
Area of Science:
- Dermatology
- Clinical Genetics
- Pediatric Medicine
Background:
- Vohwinkel syndrome is characterized by progressive, symmetric keratoderma of the palms and soles.
- It is an autosomal dominant disorder, often associated with ichthyosis and pseudoainhum.
- This condition can lead to mutilation of digits due to constricting bands.
Observation:
- A female patient presented with classic features of Vohwinkel syndrome.
- The patient also exhibited multiple congenital anomalies: cleft lip and palate, microcephaly, and facial asymmetry.
- These additional findings suggest a broader spectrum of this genetic disorder.
Findings:
- The case expands the known phenotypic spectrum of Vohwinkel syndrome.
- Co-occurrence of palmoplantar keratoderma with craniofacial and neurological anomalies is documented.
- This presentation underscores the genetic heterogeneity and pleiotropy associated with Vohwinkel syndrome.
Implications:
- Further research is needed to understand the genetic basis of these combined anomalies.
- Improved diagnostic criteria may be required to encompass this wider range of presentations.
- This case aids in genetic counseling and understanding the prognosis for affected individuals and families.