BACKGROUND High-variable-frequency ultrasound is used as an imaging tool for various cutaneous disorders. We utilized this tool in pachyonychia congenita (PC) patients, who typically present with plantar hyperkeratosis and often severely debilitating pain, compared to patients with epidermolytic palmoplantar keratoderma (EPPK) and mal de Meleda (MDM). OBJECTIVE To ascertain the feasibility of...

Erratum It has been brought to our attention that there was an inaccuracy in the above article [1]. In the discussion section the authors state that “One of the assumptions underlying mammary transplant studies is that mammary outgrowths at limiting dilution are clonal (14,000–20,000 cells per cleared fat pad)” and they attribute this to reference 21 “Smith GH: Experimental mammary epithelial m...

4. Bergman R, Bitterman-Deutsch O, Fartasch M, GershoniBaruch R, Friedman-Birnbaum. Mal de Meleda keratoderma with pseudoainhum. Br J Dermatol 1993;128:207-12. 5. Atherton DJ, Sutton C, Jones BM. Mutilating palmoplanter keratoderma with periorificial keratotic plaques (Olmsted’s syndrome). Br J Dermatol 1900;122:245-52. 6. Pisoh T, Bhatia A, Oberlin C. Surgical correction of pseudoainhum in Voh...

Mal de Meleda (MDM) is a rare, autosomal recessive form of palmoplantar keratoderma. It is characterized by erythema and hyperkeratosis of the palms and soles that progressively extend to the dorsal surface of the hands and feet. It is caused by mutations in SLURP-1 gene encoding for secreted mammalian Ly-6/uPAR-related protein 1 (SLURP-1). We performed mutational analysis by direct sequencing ...

Titin has long been known to contribute to muscle passive tension. Recently, it was also demonstrated that titin-based stiffness increases upon Ca2+ activation of wild-type mouse psoas myofibrils stretched beyond overlap of the thick and thin filaments. In addition, this increase in titin-based stiffness was impaired in single psoas myofibrils from mdm mice, characterized by a deletion in the N...

Nagashima-type palmoplantar keratosis (PPK) is an autosomal recessive, transgressive and non-progressive form of PPK. It was once described as a mild form of mal de Meleda, but it is now proposed as a novel entity of PPK. Since its pathogenesis remains unclear, it is important to clarify the mode of inheritance. Here, we present a case of possible Nagashima-type PPK in 2 siblings. The siblings ...

BACKGROUND SLURP1 is the causal gene for Mal de Meleda (MDM), an autosomal recessive skin disorder characterized by diffuse palmoplantar keratoderma and transgressive keratosis. Moreover, although SLURP1 likely serves as an important proliferation/differentiation factor in keratinocytes, the possible relation between SLURP1 and other skin diseases, such as psoriasis and atopic dermatitis, has n...