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Results for “Keratoderma, Palmoplantar, Diffuse”

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PubMed1995

Keratoderma hereditarium mutilans (Vohwinkel's syndrome) associated with congenital deaf-mutism.

Keratoderma hereditarium mutilans, or Vohwinkel's syndrome, is a rare cutaneous disorder which is characterized by thickening of the palms, soles and dorsa of the hands and feet, and by ainhum-like constrictions of the fingers. We report a clinically typical case of Vohwinkel's syndrome in a 28-year-old, deaf-mute, woman. The patient presented with keratotic palms and soles which had a 'honeycomb' appearance, starfish-like keratoses on the dorsa of the hands, and pseudoainhum of the digits. Osteoporotic changes were present distal to the constricting bands. Successful treatment with retinoids has been reported recently, and the hyperkeratosis and constricting bands in our patient improved on therapy with etretinate.

Adult↗
PubMed1997

The inherited palmoplantar keratodermas.

The inherited palmoplantar keratodermas (PPK) constitute a complex heterogeneous group of genodermatoses, which are difficult to classify clinically. The application of modern molecular biology techniques are leading to an increased understanding of the genetic bases of these disorders and are paving the way towards a classification based upon molecular pathology. We review the recent research advances in this field and the implications for development of novel approaches to disease management.

Humans↗
PubMed1990

Characterization of Candida albicans epidermolytic proteases and their role in yeast-cell adherence to keratinocytes.

Epidermolytic proteases were partially purified from six strains of Candida albicans, four of which were isolated from patients with cutaneous diseases. Two of the strains exhibited a unique time-course of enzyme production compared to that previously reported, with detectable epidermolytic protease levels being significantly delayed. All epidermolytic proteases had pH and temperature optima of 4-4.5 and 35-37 degrees C, respectively. These conditions are consistent with the microenvironment of human skin, a habitat where an epidermolytic protease would appear to be an important advantage to the yeast. Candida epidermolytic proteases were more active against a substrate of normal human epidermis than that obtained from psoriatic patients. When human epidermis replaced bovine serum albumin as the protein source within the culture medium, the epidermolytic activity of the resultant enzyme was reduced by 9 and 25% for normal and psoriatic epidermis substrates, respectively. The proteases were found to contain major protein bands at 42 and 66 kDa. The ability of these same Candida strains to adhere to human epidermal cells was studied and found to be optimal at 35-37 degrees C within neutral pH values. Pepstatin, bovine brain gangliosides, and convalescent human serum all interfered with the adherence of the yeast to epidermal cells. A higher yeast-epidermal-cell adherence for Candida was demonstrated on normal rather than psoriatic epidermal cells, and after treating the cells with partially purified Candida protease.

Adult↗
PubMed1991

Hereditary epidermolytic palmo-plantar keratoderma (Vörner type)--report of a family and review of the literature.

We describe a patient in whose family 13 of 26 members have a palmo-plantar keratoderma. The histopathological findings in the proband, his brother and father were those of epidermolytic hyperkeratosis. As in other families reported, this disorder was found to be inherited as an autosomal-dominant trait. A review of the literature on the clinical, genetic and associated features of this genodermatosis is presented. We also review the cutaneous conditions that may exhibit the histopathological pattern of epidermolytic hyperkeratosis.

Adult↗
PubMed1991

Abnormalities of differentiation and maturation in the oesophageal squamous epithelium of patients with tylosis: morphological features.

Tylosis is an autosomal dominant inherited defect of keratinization, associated in two Liverpool families with a high risk of developing oesophageal squamous carcinoma. In 29 individuals, followed by regular endoscopy and biopsy, we have noted several morphological abnormalities of the epithelium in this pre-cancerous condition. A control group of 43 non-tylotic patients with normal oesophageal histology and a further 26 patients with acute oesophagitis was used for comparison. Recognizable dysplasia was confined to the older age range in the tylotic group and was present in four patients. Almost half of the patients showed acute inflammation. Abnormalities of maturation were common, the most frequent being the presence of prominent basophilic inclusions and clear cell acanthosis, with parakeratosis and frank surface keratinization present in smaller numbers. There was, however, no statistically significant difference between the tylotic and inflamed control groups for any of these features. The only feature to show a significant difference between these groups was the presence of individual cell keratinization. The results suggest that in the oesophageal epithelium of the patients with tylosis, inflammation is the predominant abnormality, together with individual cell keratinization, and that these lesions appear in a much younger age group than dysplasia.

Adolescent↗
PubMed1990

Epidermal growth factor receptors in genetically induced hyperproliferative skin disorders.

The presence and morphologic distribution of epidermal growth factor receptor (EGF-R) were investigated in a variety of genetic disorders that affect human epidermis. These diseases included various forms of ichthyoses as well as restrictive dermopathy and the CHILD syndrome (congenital hemidysplasia-ichthyosiform erythroderma-limb defects). The distribution of EGF-R was detected by immunohistochemical techniques. Increased staining of immunoreactive EGF-R was frequently, but not always, seen in lesions with experimental or clinical evidence of hyperproliferation, suggesting an increased potential to respond to endogenous levels of either transforming growth factor-alpha or EGF. The finding that EGF-R levels are not always increased in congenital epidermal disorders indicated that the presence of this receptor pathway is not simply a marker for aberrant epidermis.

Adult↗
PubMed1999

To B or not to B: is tylosis B truly benign? Two North American genealogies.

Tylosis is a rare, autosomal dominant syndrome presenting with hyperkeratosis of the palms and soles of the feet. Two types have been identified. Late onset tylosis (type A) is reported to be associated with a high incidence of esophageal carcinoma, whereas early onset tylosis (type B) appears to be a benign disorder. This distinction has significant implications for surveillance and prognosis. We report two families exhibiting early onset type B tylosis, spanning five and seven generations, respectively, and believe these to be the first two extensive genealogies of tylosis type B reported in North America. They serve to verify the features of type B tylosis and its benign prognosis. The world literature is reviewed and clinical relevance is discussed. Recommendations for follow-up of afflicted individuals are proposed.

Aged↗
PubMed1998

Structural organization of cornified cell envelopes and alterations in inherited skin disorders.

The cornified cell envelope is a highly insoluble and extremely tough structure formed beneath the cell membrane during terminal differentiation of keratinocytes. Its main function is to provide human skin with a protective barrier against the environment. Sequential cross-linking of several integral components catalyzed by transglutaminases leads to a gradual increase in the thickness of the envelope and underscores its rigidity. Key structural players in this cross-linking process include involucrin, loricrin, SPRRs, elafin, cystatin A, S100 family proteins, and some desmosomal proteins. The recent identification of genetic skin diseases with mutations in the genes encoding some of these proteins, including transglutaminase 1 and loricrin, has disclosed that abnormal cornified cell envelope synthesis is significantly involved in the pathophysiology of certain inherited keratodermas and reflects perturbations in the complex, yet highly orderly process of cornified cell envelope formation in normal skin biology.

Amino Acid Sequence↗
PubMed1993

Human papillomavirus in squamous cell carcinoma of the oesophagus associated with tylosis.

Human papillomavirus (HPV) may have a pathogenic role in squamous cell carcinoma of the oesophagus. Tylosis, an inherited thickening of the skin of the palms and soles, was associated with a high risk of developing squamous cell carcinoma of the oesophagus among members of a large family in Liverpool. The resected carcinomas of the oesophagus was examined from four such patients with DNA probes to HPV types 6,11,16,18,31,33 and 35 using in situ hybridisation under conditions of high stringency. No reaction was detected. The oesophageal biopsy specimens from 10 tylotic subjects without carcinoma were also examined. No HPV DNA was detected. It is concluded that there is no evidence that HPV infection has a role in the development of squamous cell carcinoma of the oesophagus in tylosis.

Carcinoma, Squamous Cell↗