Olmsted syndrome is a relatively rare congenital (existing from birth) condition that causes abnormal skin development and thickness. Hand and foot soles, as well as the region surrounding the eyes and mouth, are the most frequently affected body parts. This syndrome, known as Olmstead Syndrome, is highly unusual. Symptoms mostly appear shortly after birth, during infancy, or early childhood. This disorder potentially affects both males and females. The symptoms are used for diagnosis, and sometimes genetic testing is performed to help confirm the diagnosis. Olmsted Syndrome side effects involve:
- Significant growth delays.
- Joint contractures cause mobility issues.
- The possibility of falling and becoming hurt as a result of the seizures.
- The risk of developing a deadly malignancy.
Complications arise with or without therapy, and in certain situations, as a result of treatment.
Olmsted Syndrome Symptoms
The palms of the hands, the soles of the feet, and the region around the eyes and mouth are the parts of the body that are most frequently affected by this condition. Olmsted syndrome also causes joint problems, discomfort, itching, thin hair and nails, and other physical manifestations. Olmsted syndrome is characterized by abnormal skin thickness that tends to deteriorate over time. Infections and skin cancer are more likely to strike people with this disease.
The most prominent signs of Olmsted syndrome are periorificial keratotic and pseudoainhum plaques, both of which are related to PPK (Palmoplantar keratoderma). Leukokeratosis, corneal default, and recurrent infections are all frequently related symptoms. Both the itching and the pain range from mild to severe. The diagnosis is mostly based on clinical characteristics associating severe PPK with periorificial keratosis plaques but is most difficult in patients with incomplete phenotypic or unusual features.
Olmsted Syndrome Causes
Olmsted syndrome is a hereditary illness, which implies that it results from one or more genes not functioning properly.
A genetic disorder develops as a result of a change in a person’s DNA. Genetic alterations affect one gene, many genes, numerous genes (multifactorial inheritance), chromosomes, or a combination of genes and environmental variables.
Genetic disorders, such as sickle cell disease, are caused by mutations in a person’s genes that are passed down from their parents and are already present in the individual at birth. Other genetic illnesses that manifest at birth are brought on by sporadic genetic mutations that take place during egg or sperm development or soon after conception.
Olmsted syndrome is brought on by mutations (DNA variations) in the TRPV3 gene and the MBTPS2 gene, respectively. Olmsted syndrome possesses numerous inheritance patterns, although most occurrences are sporadic. Symptoms are used to determine a disease’s diagnosis, and genetic testing is often beneficial.
Olmsted Syndrome Treatment
No satisfactory treatment exists for this illness. Treatments applied directly to the keratotic palmoplantar skin lesions are only able to alleviate pain and fissures by reducing their thickness. It is discovered that several topical treatments, including different emollients, salicylic acid, antimicrobials, wet dressings, retinoic acid, and prolonged soaking of the affected sections in water, exhibit differing degrees of efficacy in curing the problem. Antihistamines, vitamins E and A, antibiotics, and corticosteroids are other systemic treatments that have been used anecdotally but have not consistently proven beneficial.
In patients who do not react to treatment, an additional therapeutic strategy that is frequently applied to alleviate discomfort is a full-thickness excision of hyperkeratotic plaques, which is then followed by skin grafting. Although this therapy contains the potential to alleviate finger flexion contracture, it does not eliminate the possibility of recurrence. Patients diagnosed with Olmsted syndrome notice a significant and positive change in their quality of life after receiving targeted treatment with the epidermal growth factor inhibitor erlotinib.