Mal de Meleda is a rare transgressive palmoplantar keratoderma with an estimated prevalence of 1 in 100,000 individuals. It was first described in 1826 by Stulli on the island of Mljet. Its autosomal recessive inheritance was described in 1938, and the defective gene was localized to chromosome 8 qter in 1998. Clinical features are the result of abnormal palmoplantar keratinization and include ...

Sir, Down’s syndrome (trisomy 21) is a multisystem disorder with a birth incidence of approximately 1 in 700 live births, making it the most common autosomal chromosomal disorder causing mental retardation. Down’s Syndrome is also associated with an increased incidence of cutaneous disorders.[1-4] In particular, there seems to be an increased incidence of xerosis, atopic dermatitis, seborrheic ...

palmoplantar keratoderma in patients from PPK01. Note the typical clinical presentation of more punctate lesions on the palms and more confluent lesions on the soles, demonstrating increased hyperkeratinization from mechanical trauma. (B) The pedigree for Israeli family PPK01 with sequencing results indicated below the patients (+ indicates wild-type,-indicates mutation). White indicates unaffe...

Pityriasis rubra pilaris (PRP) is a rare papulosquamous dermatosis characterized by keratotic follicular papules, erythematous scaling, pahnoplantar keratoderma and a variable degree of erythroderma. Type I PRP, the most common adult form, has a typical clinical manifestation, and remission in these patients can be achieved within 3 years. However, the rare type II PRP presents atypical feature...

Reiter's syndrome and other reactive arthritides have been described following infection with various organisms although they can occur in unusual circumstances without an obvious infectious precipitant. We have recently witnessed two attacks of reactive arthritis and keratoderma blenorrhagica occurring in an HLA B27 adult male following chemotherapy on two separate occasions with the same drug...

Abstract A 19-month-old infant came to our attention showing clinical signs consistent with focal keratoderma limited the palms and soles, dystrophic pachyonychia of all his nails scalp alopecia characterized by sparse curly hair. His oral cavity examination revealed periodontitis, early tooth decay notching incisor teeth. The patient is second child a nonconsanguineous, otherwise healthy coupl...