1/10. Diagnosis and prenatal diagnosis of epidermolysis bullosa herpetiformis (Dowling-Meara) in a mother, two affected children, and an affected fetus.In utero skin biopsy was performed on a fetus at risk of an uncertain form of epidermolysis bullosa (EB). The mother had produced two affected offspring diagnosed variously as having junctional or dystrophic EB. The two offspring and the fetus were products of different fathers. The mother claimed to have no disease and on clinical examination was without blisters. Examination of the fetal skin biopsy by light and electron microscopy revealed separation of the epidermal sheet from the majority of the biopsy sample, although occasional remnants of basal cells remained associated with the basement membrane. Aggregations of keratin filaments were observed within basal cells of the detached epidermis and in the attached basal cell remnants. The diagnosis was thus suggested to be epidermolysis bullosa Dowling-Meara. Re-review of the clinical and laboratory data from the affected infants revealed a clinical and histological pattern consistent with this diagnosis. Further discussion with the mother revealed that her skin had blistered as a child and that she presently had hyperkeratotic palms and soles. This history is consistent with the autosomal dominantly inherited epidermolysis bullosa herpetiformis (Dowling-Meara). This is the first reported prenatal diagnosis of EB Dowling-Meara. The morphological criteria of intraepidermal blistering and clumped keratin filaments within basal and immediately suprabasal cells characteristic of an affected individual postnatally also identified an affected fetus. There is, however, insufficient experience to be certain that these findings will hold from region to region in the body or among all affected fetuses, and thus prenatal diagnosis on a morphological basis should still be made with caution.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
2/10. Histopathological and ultrastructural study of ectodermal dysplasia/skin fragility syndrome.ectodermal dysplasia/skin fragility syndrome (EDSFS) (MIM604536) is a newly described autosomal recessive disorder characterized by skin fragility and blistering, palmoplantar keratoderma, abnormal hair growth, nail dystrophy, and occasionally defective sweating. It results from mutations in the PKP1 gene encoding plakophilin 1 (PKP1), which is an important component of stratifying epithelial desmosomes and a nuclear component of many cell types. Our study was performed to further characterize the histopathology of EDSFS in different cutaneous sites with a special emphasis on the hypotrichosis and keratoderma. A total of 4 biopsies were obtained from 2 EDSFS female patients, aged 9 days to 4 years. The biopsies were taken from the blistering skin of the leg and trunk, the hyperkeratotic skin of the sole, and the hypotrichotic scalp. The observed histopathologic features included: widened intercellular spaces, suprabasal intraepidermal clefts and blisters with acantholytic keratinocytes, detachments of the upper epidermal layers due to disadhesion, varying degrees of dyskeratosis that were much more pronounced in the plantar hyperkeratotic skin, and increased number of catagen-telogen hair follicles. The electron-microscopic observations attributed the disadhesion and acantholysis to reduced numbers of small hypoplastic desmosomes, and the dyskeratosis to the detachment of intracellular keratin filaments from the desmosomes with perinuclear condensation, which might also underlie the plantar keratoderma. The hair follicle findings suggest disturbance in the hair cycle, which might be attributed to disturbed nuclear PKP1 function or result from aberrant desmosomal signaling.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
3/10. Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa.The cytoplasmic plaque protein desmoplakin (DP), which is located in desmosomes, plays a major role in epithelial and muscle cell adhesion by linking the transmembrane cadherins to the cytoplasmic intermediate filament network. Mutations of DP may cause striate palmoplantar keratoderma, arrhythmogenic right ventricular dysplasia, skin fragility/woolly hair syndrome, Naxos-like disease, and Carvajal syndrome. DP must be indispensable, because DP-/- mice are early abortive. Here, we report a patient with severe fragility of skin and mucous membranes caused by genetic truncation of the DP tail. The new phenotype is lethal in the neonatal period because of immense transcutaneous fluid loss. The phenotype also comprised universal alopecia, neonatal teeth, and nail loss. histology showed suprabasal clefting and acantholysis throughout the spinous layer, mimicking pemphigus. Electron microscopy revealed disconnection of keratin intermediate filaments from desmosomes. Immunofluorescence staining of DP showed a distinct punctate intercellular pattern in the patient's skin. Protein analysis revealed expression of truncated DP polypeptides. Mutational analysis of the patient demonstrated compound heterozygosity for two DP mutations, 6079C-->T (R1934X) and 6370delTT, respectively. Aberrant mRNA transcripts that predict premature termination of translation with loss of the three intermediate filament-binding subdomains in the DP tail were detected by RT-PCR. The new dramatic phenotype, which we named "lethal acantholytic epidermolysis bullosa," underscores the paramount role of DP in epidermal integrity.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
4/10. Epidermolysis bullosa herpetiformis with mottled pigmentation and an unusual punctate keratoderma.We report the clinical and pathological features of an epidermolytic form of epidermolysis bullosa (EB) present in a family with six affected members that was transmitted in an autosomal dominant manner in four generations. The essential clinical features included generalized herpetiform blistering of the skin, mottled pigmentation and palmo-plantar hyperkeratosis, both punctate and diffuse. biopsy material obtained from fresh blisters, clinically intact preblistering skin, hyperkeratotic areas, and skin with mottled pigmentation was examined by light and/or electron microscopy. In addition to reporting a heretofore undescribed association of EB herpetiformis with mottled pigmentation and punctate keratoderma, we report previously undescribed histologic changes in the areas of punctate hyperkeratosis. Specifically, the unique histologic findings consisted of the presence of dyskeratotic cells with clear cytoplasm at the cellular periphery, parakeratosis, and involvement of the intradermal portion of the sweat duct. The possibility that these findings represent a new type of epidermolytic EB, rather than a variant of other types of epidermolytic EB, particularly EB herpetiformis or EB with mottled pigmentation, is discussed.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
5/10. epidermolysis bullosa simplex with keratoderma of the palms and soles.A family is described who had epidermolysis bullosa (EB) simplex (Koebner) associated with keratoderma of the palms and soles. This association has been infrequently reported in the literature. The keratoderma appears to have a protective effect as these patients developed few palmar and plantar blisters in the area of the keratoderma. EB simplex (Koebner) with keratoderma appears to be a distinct syndrome, but the simultaneous occurrence of two dominantly inherited traits cannot be excluded.- - - - - - - - - - ranking = 6keywords = palm (Clic here for more details about this article) |
6/10. Epidermolysis bullosa herpetiformis Dowling-Meara in a large family.A large Arab family, originating from Jerusalem, including 38 affected members (19 male and 19 female) with epidermolysis bullosa herpetiformis Dowling-Meara over four consecutive generations is described. Fourteen of 38 affected members of the family were examined clinically; their ages ranged from 2 to 35. The main clinical features were bullae, generalized, solitary, and in groups, with predilection to the skin of the palms and soles. Mild to moderate patchy hyperkeratosis of the palms and soles was found in 5 affected members of the family; their ages ranged from 2 to 7; 9 other affected adults were free. Blisters in oral mucous membranes were noted and found in summer and in periods of fever; hair, teeth, and nails were normal. age of onset of the disease was from birth to 2 weeks. Expressivity appeared equally variable within and between sibships. Improvement was noted by progression of age from 5 to 23 years, and by some in summer and by others in winter. In contrast to previous reports, aggravation of the disease was noted during fever periods. Ultrastructural studies from a fresh blister disclosed intraepidermal blister via cytolysis of basal cell cytoplasm. The pedigree shows the transmission of an autosomal dominant gene. Affection of both consanguineous parents and their six offspring with epidermolysis bullosa herpetiformis Dowling-Meara is the most striking feature of the family--probably 25% of their offspring were homozygote.- - - - - - - - - - ranking = 2keywords = palm (Clic here for more details about this article) |
7/10. Severe infantile epidermolysis bullosa simplex. Dowling-Meara type.We encountered eight patients with epidermolysis bullosa (EB) simplex of the Dowling-Meara type, who presented in infancy with severe blistering and were originally clinically thought to have recessive dystrophic EB. One infant died in the neonatal period, and the others have had reduced blistering with advancing age. However, in two of the three older patients, the development of severe disabling hyperkeratosis of the palms and soles has been a prominent feature. The correct diagnosis of EB simplex was initially not made in five patients, because, on routine histologic examination, the blister was apparently subepidermal. Electron microscopy confirmed the correct diagnosis of EB simplex by demonstration of basal cell cytolysis. There was clumping of tonofilaments in seven patients. Immunofluorescence demonstrated a cleft above the basal layer in three cases. The findings of severe extensive blistering at birth that improves with age, milia formation, acral distribution with herpetiform groups of blisters in older children, intraoral lesions, absence of scarring, and intraepidermal clefting due to basal cell cytolysis and clumping of tonofilaments within these basal cells as seen on electron microscopic examination present a subtype of EB simplex similar to that described by Dowling and Meara. This has been recognized in the European but not in the American literature and is probably more frequent than has been previously reported.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
8/10. Surgical correction of the hand in epidermolysis bullosa dystrophica.epidermolysis bullosa dystrophica (polydysplastic type) is a rare congenital skin anomaly which, in the hands, because they are exposed to repeated trauma, results in a severe "mitten"-like deformity. Functional benefit was obtained in three patients by separation of the digits and application of split-thickness grafts. Wolfe grafts or "split-off" (epidermis) grafts. arthrodesis of the interphalangeal joints and filleting of the little finger to provide a flap which could be turned in to the palm, resulted in an improvement in hand function.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
9/10. Kindler syndrome in two related Kurdish families.We describe a 19-year-old girl with Kindler syndrome. She has suffered from bullae on pressure areas of the skin since birth. These healed with atrophic scars and caused marked atrophy of the skin of the palms and soles and wrinkled and parchment-like skin of the dorsum of the hands and feet. Since infancy the patient has also suffered from severe photosensitivity on exposed areas and developed poikiloderma on the skin of her face, neck, chest, and upper back. Since age 17 years the patient has been free of bullae but moderate photosensitivity exists. Oral examination showed limitation of mouth opening, ankyloglossia, overjet malocclusions, and atrophy of buccal mucosa with widespread white macules. Results of laboratory tests were within normal limits. The proposita's parents (family 1) are jews of Kurdish origin and first cousins. She is the only one affected among five siblings. family 1 is related to a second family (family 2) through a common great-grandfather. The parents of family 2 are first cousins and they have three affected children. An autosomal recessive mode of inheritance of Kindler syndrome is suggested in these two related families.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
10/10. Hereditary epidermolytic palmoplantar keratoderma (Vorner type) in a family with ehlers-danlos syndrome.We describe a kindred in whom epidermolytic palmoplantar keratoderma occurred in association with ehlers-danlos syndrome type III (benign hypermobility syndrome). This kindred consisted of 27 members of four generations, 14 of whom had palmoplantar keratoderma (PPK). Of those who had palmoplantar keratoderma, 6 had Ehlers-Danlos type III (EDS II). The proband presented with diffuse, symmetrical hyperkeratotic plaques that were yellow and sharply demarcated, covering the entire palms and soles, in addition to marked large and small joint flexibility and skin hyperextensibility. A biopsy specimen from the palm revealed features of epidermolytic hyperkeratosis with acanthosis. To our knowledge, this is the first report of PPK in a family with ehlers-danlos syndrome. Linkage analysis of these two clinical traits showed that the genes responsible for PPK and EDS III are not closely linked, and therefore are not immediately adjacent. However, linkage at greater genetic distances could not be excluded.- - - - - - - - - - ranking = 9keywords = palm (Clic here for more details about this article) |
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