bromochloroacetic-acid and Dermatitis--Exfoliative

Topics: Chondroitin; Dermatitis, Exfoliative; Glycosaminoglycans; Hair; Homocystinuria; Humans; Keratins; Methionine; Psoriasis; Skin Diseases; Sulfates; Sulfur

Keratolysis exfoliativa (KE), also known as dyshidrosis lamellosa sicca, is a palmoplantar dermatosis characterized by air-filled blisters and collarette desquamation. It has been regarded as a subtype of dyshidrotic eczema, a fungal infection or a dermatophytid reaction. KE may also resemble acral peeling skin syndrome and localized epidermolysis bullosa simplex. Although KE is a common disorder, it is a rarely reported and is an under-recognized dermatosis.. To delineate the characteristic features of KE.. We investigated the clinical, immunohistopathological, ultrastructural and molecular features of KE. Patients were included from the clinical records. Additional diagnostic research consisted of mutation analysis of the candidate genes TGM5, KRT5, KRT14, FLG, SPINK6 and SPINK9.. A total of 24 patients with KE were identified, six with familial and 18 with sporadic KE. Lesions consisted of air-filled blisters only on palmoplantar skin, followed by collarette and lamellar peeling. Both light microscopy and electron microscopy showed cleavage and partially degraded corneodesmosomes within the stratum corneum, whereas immunofluorescence microscopy showed normal expression of corneodesmosomal components. No mutations were found in TGM5, KRT5/14 and SPINK6/9. There was no clear link with atopy or with FLG mutations.. Our study suggests premature corneodesmolysis as the main pathological mechanism of this palmoplantar skin disorder. We conclude that KE appears to be a distinct peeling entity.

Topics: Adolescent; Adult; Biomarkers; Child; Dermatitis, Exfoliative; Diagnosis, Differential; DNA Mutational Analysis; Female; Filaggrin Proteins; Fluorescent Antibody Technique; Humans; Keratins; Male; Microscopy, Electron; Middle Aged; Netherlands; Pedigree; Skin; Skin Diseases, Genetic; Surveys and Questionnaires

Keratolytic winter erythema (KWE), also known as "Oudtshoorn skin disease," or "erythrokeratolysis hiemalis," is an autosomal dominant skin disorder of unknown etiology characterized by a cyclical erythema, hyperkeratosis, and recurrent and intermittent peeling of the palms and soles, particularly during winter. Initially KWE was believed to be unique to South Africa, but recently a large pedigree of German origin has been identified. The disorder occurs with a prevalence of 1/7,000 in the South African Afrikaans-speaking Caucasoid population, and this high frequency has been attributed to founder effect. After a number of candidate regions were excluded from linkage to KWE in both the German family and several South African families, a genomewide analysis was embarked on. Linkage to the microsatellite marker D8S550 on chromosome 8p22-p23 was initially observed, with a maximum LOD score (Z(max)) of 9.2 at a maximum recombination fraction (theta(max)) of .0 in the German family. Linkage was also demonstrated in five of the larger South African families, with Z(max) = 7.4 at theta(max) = .02. When haplotypes were constructed, 11 of 14 South African KWE families had the complete "ancestral" haplotype, and 3 demonstrated conservation of parts of this haplotype, supporting the hypothesis of founder effect. The chromosome segregating with the disease in the German family demonstrated a different haplotype, suggesting that these chromosomes do not have a common origin. Recombination events place the KWE gene in a 6-cM interval between D8S550 and D8S552. If it is assumed that there was a single South African founder, a proposed ancestral recombinant suggests that the gene is most likely in a 1-cM interval between D8S550 and D8S265.

Topics: Chromosome Mapping; Chromosomes, Human, Pair 8; Dermatitis, Exfoliative; Erythema; Female; Founder Effect; Genes, Dominant; Genetic Linkage; Germany; Haplotypes; Humans; Keratins; Keratoderma, Palmoplantar; Lod Score; Male; Microsatellite Repeats; Pedigree; Periodicity; Seasons; South Africa

We report the case of a second patient with the extraordinary ultrastructural findings of vacuolated structures intermingled with membranes in the perinuclear part of the upper epidermal cells. Clinical, light microscopic, and electron microscopic features of this particular presentation of ichthyosis congenita type III have already been presented by K. M. Niemi and L. Kanerva in 1989. Although our patient has more or less the same light and electron microscopic findings, the clinical picture is more severe. The patient was born as a collodion baby. Later, he showed signs of generalized severe involvement with large scales, erythrodermia, and itching. Successful therapy with retinoids resulted in complete removal of the hyperkeratosis but left the striking reticulate skin pattern. Noting the heterogeneous clinical presentation, the specific electron microscopic findings are diagnostic. No biochemical data on this disease are known.

Topics: Adult; Cell Nucleus; Cytoplasmic Granules; Dermatitis, Exfoliative; Dermatologic Agents; Epidermis; Humans; Hyalin; Ichthyosis; Keratins; Keratosis; Male; Microscopy, Electron; Mitochondria; Pruritus; Retinoids; Skin; Vacuoles

Topics: Blister; Dermatitis, Atopic; Dermatitis, Exfoliative; Extremities; Facial Dermatoses; Foot Dermatoses; Genes, Dominant; Genes, Recessive; Hand Dermatoses; Humans; Ichthyosis; Keratins; Keratosis; Microscopy, Electron; Ribosomes; Scalp Dermatoses; Sex Chromosomes; Skin; Thorax

Topics: Animals; Chemical Phenomena; Chemistry; Chromatography; Crystallization; Dermatitis, Exfoliative; Guinea Pigs; Humans; Imidazoles; In Vitro Techniques; Keratins; Skin; Spectrophotometry

Topics: Biomedical Research; Chromatography; Dermatitis, Exfoliative; Fractures, Bone; Hexosamines; Histocytochemistry; Humans; Keratins; Lipids; Psoriasis; Scalp; Skin