We report a case of arthritis of the temporomandibular joint (TMJ) associated with sclerosing osteomyelitis of the mandible and temporal bone, causing deafness. The presence of a palmoplantar pustulosis established the diagnosis of SAPHO syndrome. SAPHO (an acronym referring to synovitis, acne, palmoplantar pustulosis, hyperostosis, and osteitis) syndrome is defined by the association of charac...

Dominant GJB2 mutations are known to cause a syndromic form of sensorineural hearing loss associated with palmo-plantar skin manifestations. We present the genotype/phenotype correlations of a new GJB2 mutation identified in three generations of an Italian family (proband, mother and grandfather) whose members are affected by sensorineural hearing impairment associated with adult-onset palmopla...

Mal de Meleda (MDM) is a rare form of recessive transgressive palmoplantar erythrokeratoderma for which mutations in the ARS gene have been identified recently. The ARS gene encodes SLURP-1, a secreted epidermal neuromodulator involved in epidermal homeostasis and inhibition of tumor necrosis factor-alpha release. A 27-year-old Taiwanese woman who had a history of palmoplantar keratoderma since...

Punctate palmoplantar keratoderma type 1 (PPKP1, OMIM#148600), also known as the Buschke-FischerBraurer type, is a rare form of palmoplantar keratoderma that is autosomal dominantly inherited (1). PPKP1 is clinically characterised by multiple punctate hyperkeratotic papules affecting the palmar and plantar skin, with considerable phenotypic variation among patients (2). These circumscribed papu...

Palmoplantar keratoderma (PPK) is a heterogeneous group of hereditary and acquired disorders characterized by abnormal thickening of the palms and soles. There are three clinical patterns: diffuse, focal, and punctuate. Palmoplantar keratodermas can be divided into the following functional subgroups: disturbed gene functions in structural proteins (keratins), cornified envelope (loricrin, trans...

Papillon-Lefèvre Syndrome (PLS) is a rare autosomal recessive disorder first described by two French physicians, Papillon and Lefèvre in 1924. The disorder is characterized by diffuse palmoplantar keratoderma and precocious aggressively progressing periodontitis, leading to the premature loss of deciduous and permanent teeth at a very young age. The cutaneous lesions are usually manifested simu...

Ofuji’s disease is clinically characterized by chronic and recurrent annular clusters of sterile follicular papules and pustules superimposed on plaques with central clearing and peripheral extension. Indomethacin is considered to be a first choice of treatment, but the pathogenesis of this disease is still obscure. Although most cases of Ofuji’s disease have been reported in Japanese people, i...

Lichen planus (LP) commonly involves the flexor aspects of the wrists, legs, and oral and genital mucous membranes. But it rarely occurs on the palms and/or soles. It mainly affects people in the age range 30~60 years. Childhood LP is reported to constitute only 1~4% of total cases of LP. In the literature, a few cases of LP on the palms and soles of pediatric patients have been reported. Here ...

these lesions improved and worsened cyclically along with buserelin acetate administration, the symptoms were relatively easily controlled with a topical steroid and no arthritis associated with SAPHO syndrome was apparent during all courses. Case 2 is that of a 34-year-old Japanese woman who presented with pustules on her palms and soles ( fig. 1 E). She noticed persistent palmar pustules and ...