We report a rare case of a 53-year-old womanpresenting with diffuse, late-onset disseminatedhyperkeratotic papules. Biopsy showed massivehyperkeratosis overlying a crateriform epidermaldepression and hypergranulosis with mild epidermalhyperplasia. There was no parakeratosis, cornoidlamella, or dyskeratosis. Based on the clinical findingsand histopathological features, a diagnosis ofdisseminated...

Mal de Meleda is a rare form of palmoplantar keratoderma, and recently mutations in the ARS (component) B gene have been identified in families with this disease. We identified a recurrent nonsense mutation, R96X, in four families of Turkish descent. In this report, we demonstrate that these families share a common ancestral haplotype at the mal de Meleda locus, suggesting a founder effect.

Pachyonychia congenita (PC) is a rare genodermatosis caused by mutations in any of the four genes KRT6A, KRT6B, KRT16, or KRT17, which can lead to dystrophic, thickened nails and focal palmoplantar keratoderma, among other manifestations. Although classically subdivided into two major variants, PC-1 (Jadassohn-Lewandowski syndrome) and PC-2 (Jackson-Lawler syndrome), according to the localizati...

A 49-year-old man electively chose to undergo a trial of intravenous chemotherapy with 5-fluorouracil (5-FU) for his inherited punctate palmoplantar keratoderma (PPK). His father also had this skin disorder, which coincidentally cleared after 2 courses of chemotherapy consisting of 5-FU and cisplatin to treat his lung cancer, prompting the patient to undergo this trial of therapy. After the pat...

Palmoplantar keratoderma (PPK) is a condition where the patient has thick, hard skin on palms and soles. It can cause considerable discomfort impairment of function. This problem sometimes inherited (hPPK). There are many varieties hPPK which all uncommon. They show variation in presentation, severity, genetics associated abnormalities.

Tegafur is a prodrug of 5-fluorouracil (5-FU) with a similar spectrum of antitumor activity. It is used in the treatment of advanced gastrointestinal neoplasms. Over 5-FU, tegafur has the advantage of oral administration and less hematologic toxicity. Gastrointestinal toxicity is its main dose-limiting factor. The cutaneous adverse effects of tegafur include mucositis, photosensitivity, diffuse...

Pityriasis rubra pilaris (PRP) is an uncommon erythematous papulosquamous disorder characterized by erythroderma, palmoplantar keratoderma and follicular hyperkeratosis. Although often exhibited at clinical meetings because of its rarity and difficulty in management, its etiology remains unknown. This article presents a review of this enigmatic disorder and subject of debate. Recent focus are a...

Since 1995, according to the World Health Organisation's classification of cardiomyopathies, Naxos disease has been considered as the recessive form of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). It is a stereotype association of ARVD/C with a cutaneous phenotype, characterised by woolly hair and palmoplantar keratoderma.

Olmsted syndrome is a rare congenital, sharply circumscribed transgredient palmoplantar keratoderma. It was first described by Olmsted in 1927. The diagnosis of this rare disease depends on clinical features like symmetrical involvement of keratoderma of the palms and soles and the symmetrical hyperkeratotic plaques around the body orifices. It starts in the neonatal period or in childhood. The...

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 ...