The prevalence of dermatophyte infections in hereditary palmo-plantar keratoderma

The prevalence of dermatophyte infections in hereditary palmo-plantar keratoderma of the Unna Thost variety was investigated. Sixty patients, who represented 7.5% of a well defined population, participated in the study. The prevalence was found to be about 40%. At the same time the correlation between direct microscopic examination and conventional culture methods was shown to be 88.5%.     

Hereditary palmo-plantar keratoderma: incidence of dermatophyte infections and the results of topical treatment with retinoic acid

Thirty-four patients with hereditary palmo-plantar keratoderma (HPPK) were examined with regard to dermatophyte infections. Twenty-two of the patients (65%) had dermatophytosis, a figure indicating a predisposition of this type of infection. E. floccosum was found in %0% of the HPPK patients as compared with 17% of the dermatophytoses of palms and soles in non-HPPK patients (p less than 0.01). Topical treatment of HPPK with 0.05% retinoic acid without occlusion had no observable effect.     

Anhidrotic ectodermal dysplasia with pectus excavatum, mitral valve prolapse and palmo-plantar keratoderma

Anhidrotic ectodermal dysplasia (AED) is a rare x-linked recessive disorder characterised by the triad of hypotrichosis, anodontia and anhidrosis. Here we report a case of AED with associated features of pectus excavatum, mitral valve prolapse and palmoplantar keratoderma.     

Psoriasis and hereditary palmoplantar keratoderma complicated with a dermatophyte infection. Case report

In a 29-year-old woman suffering from hereditary palmoplantar keratoderma of the Unna Thost variety, psoriasis appeared at an age of 28 years. The keratoderma on the soles was complicated with a dermatophyte infection, which made the differential diagnosis towards psoriasis difficult. Histopathologic examination of punch biopsy from the soles showed no conclusive signs of psoriasis. An increased thickness of the horny layer, which in PAS staining showed fungus hyphae, was found.     

Epidermolytic hereditary palmoplantar keratoderma. Histologic, ultrastructural, protein-chemical, and DNA analyses in two patients

Two cases of epidermolytic hereditary palmoplantar keratoderma were studied by histologic, ultrastructural, protein-chemical, and genetic methods. Histologically, epidermolytic hyperkeratosis was seen at the spinous and granular layers. Electron microscopy showed the aggregation of tonofibrils and an early appearance of keratohyaline granules as well as vacuolar formation in the epidermal cells. Some of these morphologic abnormalities were detected even in the basal cells. The decrease of 67-kilodalton (kd) keratin and the appearance of 48-kd keratin were noted by using sodium dodecyl sulfate polyacrylamide gel electrophoresis. Genetic analysis of the keratin gene family using 67-kd keratin complementary DNA by Southern blot analysis revealed the conserved gene organization of the 67-kd keratin gene. These findings suggest that undetermined regulatory abnormalities of keratinization, but not the gene structure itself, may be causative factors of this rare disease.     

Dermatophyte infections caused by Microsporum canis and Microsporum audouinii in the Greifswald area

Report of serial diseases of dermatophytoses caused by M. canis (5 patients) and M. audouinii (9 patients). Two cats and a dog were the infective source of M. canis-infection. M. audouinii-infection was stated in a children ward; here the infective source had not been detected. Remarkable are the identical morphological lesions of tinea capitis resp. corporis and the affections of adults in the two groups of patients. Griseofulvin therapy and additional veterinary hygienical treatment in case of M. canis-infection the two endemis were dissipated in few weeks.     

2 Cases of hereditary palmoplantar keratoderma. An abnormality of keratohyalin granules and keratin fibril formation

2 cases of hereditary palmoplantar keratoderma (Unna-Thost type and keratosis palmoplantaris striata s. linearis type) are reported. In the former, moderate hyperkeratosis and a partial decrease in the stratum granulosum were histologically seen. Keratohyalin granules in the uppermost cell layer of the stratum granulosum were positively stained with the Pauly reagent, though the stratum granulosum consisted of three of four cell layers in the hematoxylin-eosin-stained specimen. Electron microscopically, keratohyalin granules in the lower two or three cell layers of the stratum granulosum were less electron-dense than normal and were granular in appearance, but those in the uppermost cell layer were normal in electron density and in appearance. This case indicates that human keratohyalin granules could consist of a less electron-dense component and an electron-dense amorphous component, and the Pauly-positive substance could be electron-dense and amorphous, and the basophilic material in the hematoxylin-eosin specimen could be less electron-dense and granular under electron microscopy. In the latter, remarkable orthokeratotic hyperkeratosis and hypergranulosis were observed. Electron microscopically, three kinds of keratohyalin-like granules were observed: (1) less electron-dense granules, the electron density of which was equivalent to that of the peripheral region of the nucleus; (2) normally electron-dense amorphous granules attached to the first type of granule, and (3) extremely less electron-dense granules with a finely granular appearance. The diameter of this finely granular material was around 21 nm and a fibrous structure was also observed in or attached to this granule.     

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.     

Conserved gene organization of 67K keratin in patients with hereditary palmoplantar keratoderma

Restriction enzyme analysis to determine the divergence of the gene organization and the restriction fragment length polymorphism in four patients with two types of hereditary palmoplantar keratoderma revealed that the gene organization of 67K keratin was conserved in all cases. No restriction enzyme fragement length polymorphism was observed in a family of the Vörner type (Epidermolytic hereditary palmoplantar keratoderma) nor in a family of the Unna-Thost type. Total southern blotting analysis of both patients and controls showed the same pattern of bands; digestion with BamHI revealed 16.5 Kilo base pairs (Kbp) and 8.5 Kbp, whereas double digestion with BamHI and EcoRI showed bands of 7.2 Kbp and 4.5 Kbp, and that with BamHI and SphI gave 6.0 Kbp and 1.7 Kbp. These results indicate that abnormalities in the keratin pattern, especially a decrease in the amount of higher molecular weight keratin in Vörner type palmoplantar hyperkeratosis, are not due to changes in the gene organization, such as insertion and/or deletion in the 67K keratin gene, and that there is no polymorphism around the 67K keratin gene of either type.     

A7445G mtDNA mutation present in a Portuguese family exhibiting hereditary deafness and palmoplantar keratoderma

Mitochondrial DNA (mtDNA) A7445G point mutation has been shown to be responsible for familial nonepidermolytic palmoplantar keratoderma (NEPPK) associated with deafness without any additional features. To date, only a few cases have been described. We report a Portuguese pedigree presenting an inherited combination of NEPPK and sensorineural deafness compatible with maternal transmission. Clinical expression and age of onset of NEPPK and deafness were variable. Normal expression patterns of epidermal keratins and filaggrin, intercellular junction proteins including connexin 26, loricrin and cornified envelope proteins, were observed. Molecular analysis revealed that all the affected members, previously screened for Cx26 mutations with negative results, presented the mtDNA A7445G point mutation in the homoplasmic form. To our knowledge, this is the fifth family in whom inherited NEPPK and hearing loss are related to this mitochondrial mutation.     

Dermatophyte infections in Melbourne: Trends from 1961/64 to 2008/09

Background/Objective: To characterise the trends in dermatophyte isolation from specimens sourced from metropolitan Melbourne over a 48‐year time period. Method: Analysis of submitted specimens from three time periods. Results: Trends identified include: an increasing mean age of the patients; increased numbers of onychomycosis isolates; a significant age difference among patients with Trichophyton interdigitale isolates compared with patients who had other dermatophyte species; and an increasing number of previously rarely isolated imported dermatophytes. Conclusions: Significant shifts are occurring in dermatophyte epidemiology.     

Topical minoxidil therapy in hereditary androgenetic alopecia

A randomized double-blind trial of topical minoxidil therapy was carried out on 56 patients with hereditary male pattern baldness. The subjects selected were required to have a discernible balding patch, a minimum of 2.5 cm in diameter on the vertex of the head where the hairs could be counted and photographed. Minoxidil, 1.0 mL, was applied twice a day to the scalp beginning at the balding vertex and spreading centrifugally around the scalp. Cosmetically acceptable hair growth was achieved in 18 patients (32%). The most notable indicators for regrowth of hair were the number of indeterminate hairs initially present, the duration of baldness, and the size of the balding area. No serious systemic or cutaneous side effects were noted.     

遗传性血管性水肿的治疗进展

遗传性血管性水肿是一种少见的常染色体显性遗传病,因血浆中功能性C1酯酶抑制剂缺乏引起皮下及黏膜水肿.喉水肿诱发呼吸道阻塞可危及生命.该病早期无特效药,曾将治疗荨麻疹的抗组胺药和糖皮质激素等用于急性水肿发作的患者,收效甚微,死亡率高达30%.随着对该病发病机制的深入研究,不断涌现出新的药物,为临床医生及患者提供更多选择.概述其发病机制、临床表现,着重围绕其治疗进展.

Abstract：

Hereditary angioedema is a rare autosomal dominantly inherited disease characterized by recurrent episodes of subcutaneous and mucosal edema due to the deficiency of plasma functional C1 esterase inhibitor.Acute attacks of laryngeal swelling are often associated with a substantial risk of death.In the past,hereditary angioedema was treated with anti-histamine drugs and glucocorticoids,but the outcome was unsatisfactory,and mortality was reported as high as 30%.With further insights into the pathogenesis of hereditary angioedema,new drugs have emerged and provided clinicians and patients with more choices.The authors summarize the pathogenesis and clinical manifestations of the entity with focus on the progress in its treatment.