Olmsted syndrome 2

Olmsted syndrome 2 is a rare skin disorder characterized by marked thickening of the skin and abnormal keratinization. This condition affects primarily the palms, soles, and areas around the mouth, leading to extensive hyperkeratosis and related features. Variants in the PERP gene have been identified in affected individuals, and the disorder follows an autosomal dominant inheritance pattern. Although specific prevalence data are not available, it is understood to occur very infrequently.

Individuals with Olmsted syndrome 2 typically present with widespread hyperkeratosis that is evident on the palms, soles, and periorificial areas. Other consistent skin findings include palmoplantar hyperkeratosis, parakeratosis, and epidermal acanthosis. Patients also often experience alopecia universalis, sparse hair, cheilitis, and persistent pruritus, which can contribute to both discomfort and cosmetic issues. In addition, flexion contractures of the digits are a common feature, and a subset of individuals may exhibit woolly hair with variable frequency. Not all individuals experience all features, and severity varies considerably.

Olmsted syndrome 2 has been linked to alterations in the PERP gene, which plays a critical role in cell adhesion and the maintenance of skin integrity. Disruption of this gene’s function is believed to contribute to the abnormal keratinization observed in affected individuals. The condition is inherited in an autosomal dominant manner, meaning that a single copy of the altered gene is sufficient to cause the disorder. Genetic counseling is advised for families to understand the inheritance pattern and to discuss implications for family planning.

Currently, management of Olmsted syndrome 2 focuses on supportive care and symptom relief, with treatment plans tailored to the needs of each individual. A multidisciplinary approach is often employed, with interventions such as topical therapies, moisturizers, and other skin care measures used to help alleviate discomfort and manage hyperkeratosis. While no treatments are specifically approved for this condition, patients are encouraged to work closely with their healthcare team to explore options that can improve skin function and quality of life. Genetic counseling is also recommended to help families understand the autosomal dominant inheritance and to guide future family planning decisions.

Olmsted syndrome 2 is a lifelong condition primarily affecting skin structure and function, with outcomes that vary considerably among individuals. Some patients experience a relatively stable course while others may require ongoing adjustments in their management strategies over time. Outcomes described in medical literature continue to evolve as standards of care improve. Regular follow-up with a multidisciplinary team, along with guidance from genetic counseling, can help families navigate treatment decisions and future planning.