Presentation
The lesions usually start to develop in early adolescence but can also present later in life. Sometimes additional confluent thickening of the soles can be observed. [orpha.net]
Figure 2 Clinical presentation of the PPK phenotype. [jmg.bmj.com]
We report the case of a 61-year-old woman who presented with a long history of multiple symptomatic hyperkeratotic papules on the palms and soles. [mdedge.com]
A well-demarcated, thick, yellow hyperkeratosis is present over the palms and soles. An erythematous band is frequently present at the periphery of the keratosis. The surface is often uneven and verrucous. [emedicine.medscape.com]
[…] as "Palmoplantar keratoderma cum degeneratione granulosa Vörner," "Vörner's epidermolytic palmoplantar keratoderma", and "Vörner keratoderma" [4] ) is one of the most common patterns of palmoplantar keratoderma, an autosomal dominant condition that presents [en.wikipedia.org]
Entire Body System
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Nail Abnormality
Finally, there were no nail abnormalities. Figure 2 Clinical presentation of the PPK phenotype. [jmg.bmj.com]
abnormalities such as longitudinal fissures, onychogryphosis, and onychomadesis are frequently reported. 4,10 The course of the disease is long-term, and spontaneous resolution has not been reported in the literature. [mdedge.com]
Alopecia, hearing loss, spastic paraplegia, myopathy, ichthyosiform dermatosis, and nail abnormalities are associated findings. Cases of epithelioma cuniculatum have been reported. [emedicine.medscape.com]
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Physician
In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]
Thirteen and three affected individuals from pedigrees PPK1 and PPK2 respectively and a number of unaffected individuals were available for this study, and therese were interviewed and examined by two physicians (A Z and L H). [jmg.bmj.com]
Treatment
These topical and systemic treatments carry a variety of side effects. [12] Surgery, including excision of affected areas of the skin and replacement with unaffected skin, has been used on lesions resistant to other forms of treatment. [rarediseases.info.nih.gov]
Management and treatment Mechanical removal of the hyperkeratosis is the most effective symptomatic treatment. Keratolytic creams can support the effect. [orpha.net]
Early treatment with acitretin in childhood may allow patients to have normal adult dentition. [emedicine.medscape.com]
[…] present the current classification of the heterogeneous group of punctate palmoplantar keratoses, the cutaneous and histologic findings, the differential diagnosis, the possible association with various anomalies including malignancies, and the various treatment [mdedge.com]
Prognosis
Prognosis Although the clinical appearance can worsen over time, the general prognosis is good. Depending on the clinical severity and pain sensitivity of patients, quality of life can be affected. [orpha.net]
Prognosis and Outcomes PPPK is a benign skin condition, but as discussed has been rarely linked to certain malignancies. The lesions themselves do not warrant aggressive treatment. There is no report yet of spontaneous resolution. Dr. [the-dermatologist.com]
Etiology
Etiology Mutations in the AAGAB gene (15q22.33-q23) have recently been identified as one of the causes of PPKP1. [orpha.net]
Epidemiology
Summary Epidemiology The prevalence of PPK1 has been estimated at 1.17/100,000 in Croatia and 3.3/100,000 in Slovenia. PPK1 has been reported 35 families worldwide to date. [orpha.net]
Genetics and Development, Columbia University, New York, NY, USA 3 Department of Dermatology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel 4 Laboratory of Statistical Genetics, Rockefeller University, New York, NY, USA 5 Department of Epidemiology [jmg.bmj.com]
Pathophysiology
Her clinical and pathophysiological data have been reported elsewhere.4 She developed generalized erythematous rash immediately after birth, followed by superficial peeling and ichthyosiform erythroderma. [docksci.com]
Prevention
Elective extraction of involved teeth may prevent excess bone resorption. Appropriate antibiotic therapy may be required for periodontitis and recurrent cutaneous and systemic infections. [emedicine.medscape.com]