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This chapter contains sections titled: Introduction Diffuse hereditary palmoplantar keratodermas without associated features Diffuse hereditary palmoplantar keratodermas with associated features Focal hereditary palmoplantar keratodermas without associated features Focal hereditary palmoplantar keratodermas with associated features Papular hereditary palmoplantar keratodermas without associated features Palmoplantar keratodermas of uncertain identity References

This paper introduces superpixels to enhance the detection of skin lesions and to discriminate between melanoma and nevi without false negatives, in dermoscopy images. An improved Simple Linear Iterative Clustering (iSLIC) superpixels algorithm for image segmentation in digital image processing is proposed. The local graph cut method to identify the region of interest (i.e., either the nevi or melanoma lesions) has been adopted. The iSLIC algorithm is then exploited to segment sSPs. iSLIC discards all the SPs belonging to image background based on assigned labels and preserves the segmented skin lesions. A shape and geometric feature extraction task is performed for each segmented SP. The extracted features are fed into six machine learning algorithms such as: random forest, support vector machines, AdaBoost, k-nearest neighbor, decision trees (DT), Gaussian Naïve Bayes and three neural networks. These include Pattern recognition neural network, Feed forward neural network, and 1D Convolutional Neural Network for classification. The method is evaluated on the 7-Point MED-NODE and PAD-UFES-20 datasets and the results have been compared to the state-of-art findings. Extensive experiments show that the proposed method outperforms the compared existing methods in terms of accuracy.

R-spondins are a recently characterized small family of growth factors. Here we show that human R-spondin1 ( RSPO1 ) is the gene disrupted in a recessive syndrome characterized by XX sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin. Our data show, for the first time, that disruption of a single gene can lead to complete female-to-male sex reversal in the absence of the testis-determining gene, SRY .

Foot hyperkeratosis is common. They often coincide with fungal infections, are difficult to cure and relapse rates are high. In this case study, longstanding and intractable plantar hyperkeratotic lesions were investigated for potential causative agents by histological examinations, by using human cell culture medium to grow the infected skin tissue, by sequencing ribosomal DNA and whole genome. Aspergillus sydowii was identified as the pathogen in the hyperkeratotic lesions. A peculiars intracellular infection of the fungus appeared to merge with anucleated epithelial cells of the skin, in which not fungal cells but basophilic nucleus-like bodies and abundant fungal proteins were seen in the cells. The composite fungal–human zombie-like cells were found to grow in the culture and in hyperkeratotic lesions, and some were readily transformed to natural fungus. Such zombie cells might play roles in the pathogenesis and recurrences of plantar hyperkeratotic lesions, resistance to antifungal drugs and relapses of the fungal infections.

Olmsted syndrome is a rare genodermatosis. Palmoplantar keratoderma and periorificial keratodermic plaques are the most important clinical findings. Additional findings associated with a large number of systems may accompany such as teeth, nail deformities, alopecia, mental retardation, and bone-joint anomalies. Therefore, it is difficult to make a differential diagnosis from other palmoplantar keratodermas. It also needs to be differentiated from acrodermatitis enteropathica because of periorificial plaques. The absence of regression in lesions with zinc treatment excludes this disease. We present here an Olmsted syndrome case with essential thrombocytosis for the first time.

Bart-Pumphrey syndrome (BPS) is an autosomal-dominant disorder characterized by hearing loss, leukonychia, knuckle pads and palmoplantar keratoderma. Two mutations in the extracellular domain of GBJ2 are resposible for this syndrome. To date, less than 10 case reports or clinical series about BPS have been published in the literature. Hearing loss and knuckle pads are the more commonly seen findings of this syndrome. Three generations and six family members with variable findings of knuckle pads, leukonychia, hearing loss and palmoplantar hyperkeratosis were presented in this report. We want to emphasize that dermatogists must be alert during the evaluation of these findings because some findings of this disorder may be vague or absent.

Vohwinkel syndrome (VS; OMIM 124500), also known as mutilating palmoplantar keratoderma, is a rare autosomal dominant skin disease first described by Vohwinkel in 1929. VS is characterized by diffuse hyperkeratosis of palms and soles, a honeycomb appearance, starfish-like keratoses, and constriction bands leading to auto-amputation of the digits (pseudo-ainhum).

Background and Purpose: Radiotherapy (RT) is well accepted for therapy-refractory palmo-plantar eczema or psoriasis, despite of lacking evidence regarding beneficial long term effects. Furthermore, the optimal irradiation dose is unknown. We evaluated the outcome of RT with two different RT single/total dose (SD/TD) treatment policies. Patients and Methods: 28 consecutive patients with therapy-refractory eczema (n = 22) or psoriasis (n = 6) of palms and/or soles were irradiated twice a week either with a D max SD of 1 Gy (6/98–5/03; median TD: 12 Gy) or 0.5 Gy (6/03–7/04; median TD: 5 Gy). Median age was 52 years (27–71), median follow-up 20 months (4–76). Totally 88 regions were treated, 49 with 1 Gy, 39 with 0.5 Gy SD. Eight different symptoms were scored from 0 (absent) –3 (severe), giving a possible sum score of 0–24. Patients' rating of RT result was also documented (worse/stable/better/complete remission). Results: The sum score was 15 (6–23) before RT, 2 (0–16) at the end of RT, and 1 (0–21) at last follow-up, respectively. The improvement was highly significant in both treatment regimens. Better or complete remission by the patients were reported in 44 and 39 (= 83 out of 88) localisations, that was often stable during the follow-up. 5 (6%) regions in 3 (11%) patients didn't benefit from RT. Conclusion: RT reveals excellent results in palmo-plantar eczema or psoriasis. We recommend a SD of 0.5 Gy twice a week up to a TD of 4–5 Gy.