To cite: Caetano J, Fernandes das Neves M, Oliveira S, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2014208511 DESCRIPTION A 60-year-old woman with type 1 diabetes mellitus and a history of repeated urinary tract infections due to Proteus mirabillis presented with diffuse palmoplantar hyperkeratosis of 4 months duration (figure 1) and acute retrosternal ...

Punctate palmoplantar keratoderma type 1, also known as Brauer-Buschke-Fisher syndrome, is an autosomal dominant inherited disorder with variable penetrance. The disorder is characterized by multiple punctate hyperkeratotic papules on the palms and soles. Although it is a clinical rarity, a spot diagnosis can usually be made provided one is familiar with the condition thereby unnecessary diagno...

The ectodermal dysplasias are a heterogeneous group of disorders with primary defect in hair, teeth, nail and sweat gland function. Numerous types have been described and several classifications exist. Here, we present a patient with ectodermal dysplasia with alopecia, dysplastic nails, hypohidrosis, sensorineural deafness, palmoplantar keratoderma, abnormal teeth and dry skin. To our knowledge...

Keratosis follicularis spinulosa decalvans is a rare, X-linked disorder characterized by scarring alopecia of the scalp and eyebrows in the setting of widespread keratosis pilaris. Less frequent associations are ocular abnormalities and palmoplantar keratoderma. Acne keloidalis nuchae has previously been described in one patient with keratosis follicularis spinulosa decalvans. We report another...

Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant disease characterized by diffuse hyperkeratosis of the epidermis of the palm and sole with an erythematous margin. The Keratin 9 (KRT9) and Keratin 1 genes are responsible for EPPK. Several previous studies have focused on the genetic basis of EPPK; however, genetic anticipation has not yet been reported. We described a four...

Palmoplantar keratodermas (PPKs) are a large group of disorders characterized by hyperkeratosis of palms and soles. They can be classified by their mode of inheritance, the morphology and distribution of the hyperkeratosis (diffuse, focal or punctate), the involvement of other ectodermal structures, the presence or absence of associated nonectodermal features and the morphological findings at l...