1/11. Composite keratohyaline granules in striate keratoderma.The gross, light microscopic, and ultrastructural findings in a 55 year old man was striate keratoderma are presented. There was no family history of the disease. The lesions developed in his late teens and early adult years, and consisted of progressively worsening, raised, hyperkeratotic, linear plaques on the palm and volar surface of the third and fifth fingers bilaterally. There were also painful callosities on both heels, and thick, raised plaques on the heels and lateral plantar surfaces. The epidermis was papillomatous and acanthotic, with marked orthokeratosis, minimal parakeratosis, and a very thickened granular layer. No epidermolysis was seen. Electron microscopy showed increased tonofibrils in the stratum spinosum arranged in wavy, parallel bundles and a granular layer in which normal Odland bodies were present. However, the keratohyaline granules were large, with rounded borders and a striped, alternating, dark and light content characteristic of composite granules. There was diminished contact of the granules with tonofibrils. The transition to the stratum corneum was abrupt. The ultrastructural and genetic features of keratodermas, with special emphasis on the striate type, are reviewed.- - - - - - - - - - ranking = 1keywords = epidermolysis (Clic here for more details about this article) |
2/11. Expression of a truncated keratin 5 may contribute to severe palmar--plantar hyperkeratosis in epidermolysis bullosa simplex patients.epidermolysis bullosa simplex are dominant disorders of skin fragility characterized by intraepidermal blistering upon mild mechanical trauma. skin fragility is caused by expression of either an abnormal keratin 5 or an abnormal keratin 14 protein, which compromises the structure and function of the keratin cytoskeleton of basal cells. We report an epidermolysis bullosa simplex patient with a novel single base substitution (A-->T1414) that changes the lysine residue at amino acid 472 to a non-sense codon (K472X). This change predicts the synthesis of a truncated keratin 5, missing 119 amino acids, including the entire tail domain and the highly conserved KLLEGE motif at the carboxy terminus of the 2B domain of the central rod. Expression of an altered keratin 5, of predicted mass and pI for the product of the K472X allele, was documented by one- and two-dimensional western blots of protein extracts from patient skin. Ultrastructural analysis of the patient's nonhyperkeratotic skin was remarkable for basal keratinocytes with dense and irregular keratin filaments proximal to the basement membrane. keratinocytes, transfected with a cDNA carrying the A-->T1414 non-sense mutation, overexpressed a truncated keratin 5, and showed a disorganized and collapsed keratin filament cytoskeleton. This is the second epidermolysis bullosa simplex patient reported with a premature termination mutation in the KLLEGE motif. The remarkable occurrence of severe palmar--plantar hyperkeratosis in both patients suggests that the keratin 5 tail domain may have unrecognized, but important, normal functions in palmar-plantar tissues.- - - - - - - - - - ranking = 1719.6425094559keywords = epidermolysis bullosa simplex, bullosa simplex, epidermolysis bullosa, epidermolysis, bullosa, simplex (Clic here for more details about this article) |
3/11. Severe palmo-plantar hyperkeratosis in Koebner epidermolysis bullosa simplex.A 22-year-old Japanese woman with Koebner epidermolysis bullosa simplex presented with severe palmo-plantar hyperkeratosis. skin biopsy specimens from the palm revealed hyperkeratosis and acanthosis with blistering in the basal cell layer. An electron microscopic study showed cytolysis of basal cells and clumping of tonofilaments forming thick bundles and perinuclear electron-dense bodies. hand contractures were released and covered with full thickness autografts or split thickness autografts. The donor site was successfully treated with cultured epidermal autografts.- - - - - - - - - - ranking = 1384.7303252288keywords = epidermolysis bullosa simplex, bullosa simplex, epidermolysis bullosa, epidermolysis, bullosa, simplex (Clic here for more details about this article) |
4/11. Identification of the keratin K9 R162W mutation in patients of Italian origin with epidermolytic palmoplantar keratoderma.Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant skin disorder characterized by hyperkeratosis of the palms and soles associated with histologic findings of hyperkeratosis and epidermolysis. Ultrastructurally, there is vacuolization of the cytoplasm and abnormal keratin filament network with tonofilament clumping. EPPK is caused by mutations in the keratin 9 gene (KRT9), which is expressed exclusively in suprabasal keratinocytes of palmoplantar epidermis. The mutation R162W is the most frequent keratin 9 alteration reported in patients from different geographical areas. We present three unrelated Italian families affected by EPPK in which we confirmed the presence of the R162W mutation, by RT-PCR analysis followed by sequencing of the KRT9 gene, in all affected members. The finding of the same mutation in all patients, together with the previous reports of the disease, strongly suggest that position 162 of the KRT9 gene represents a mutation "hot-spot", probably due to the peculiarity of the sequence.- - - - - - - - - - ranking = 1keywords = epidermolysis (Clic here for more details about this article) |
5/11. 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 = 3.8074056538943keywords = epidermolysis bullosa, epidermolysis, bullosa (Clic here for more details about this article) |
6/11. 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 = 235.03723028848keywords = bullosa simplex, epidermolysis bullosa, epidermolysis, bullosa, simplex (Clic here for more details about this article) |
7/11. Pseudodendritic keratitis and systemic tyrosinemia.Three children (6 eyes) with systemic tyrosinemia who presented with a diagnosis of herpes simplex keratitis are described. Two of the patients underwent extensive treatment for herpes simplex keratitis until their defects in tyrosine metabolism were discovered. All three children responded favorably to a low-tyrosine diet. These cases illustrate the typical corneal findings of the Richner-Hanhart syndrome (pseudodendritic keratitis, hyperkeratotic skin lesions of the palms and sole without mental retardation). The findings in these three patients were similar to those cases previously reported in the literature except none had mental retardation. The ophthalmologist confronted with a young child with bilateral dendritiform keratitis should request evaluation of the serum tyrosine levels.- - - - - - - - - - ranking = 0.026030365984771keywords = simplex (Clic here for more details about this article) |
8/11. Richner-Hanhart syndrome (tyrosinemia type II). Case report and literature review.Richner-Hanhart syndrome (Tyrosinemia Type II) is an autosomal recessive disorder of amino acid metabolism characterized by ocular changes, painful palmoplantar hyperkeratosis, and mental retardation. serum tyrosine increases due to tyrosine aminotransferase deficiency resulting in the deposition of tyrosine crystals in the cornea and in corneal inflammation. patients are often misdiagnosed as having herpes simplex keratitis. We report on a child who presented with bilateral keratitis secondary to Tyrosinemia Type II diagnosed as herpes simplex keratitis.- - - - - - - - - - ranking = 0.026030365984771keywords = simplex (Clic here for more details about this article) |
9/11. Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families.keratins K6 and K16 are expressed in suprabasal interfollicular epidermis in wound healing and other pathological conditions associated with hyperproliferation, such as psoriasis and are induced when keratinocytes are cultured in vitro. However, these keratins are also constitutively expressed in normal suprabasal mucosal and palmoplantar keratinocytes. Mutations in keratins have been reported in the basal keratin pair K5 and K14 in epidermolysis bullosa simplex and in suprabasal epidermal keratins K1, K2 and K10 in epidermolytic ichthyoses. Two families with autosomal dominant disorder of focal non epidermolytic palmoplantar keratoderma, have oral mucosal and follicular lesions in addition to the palmoplantar hyperkeratosis. Previous studies have shown linkage in these families to the type I keratin gene cluster at 17q12-q21 and this report shows that the cDNA of affected members of both families have novel heterozygous mutations in the expressed keratin 16 gene. These mutations (R10C and N8S) lie in the helix initiation motif of the 1A domain. These mutations do not appear to cause epidermolysis on light or electron microscopy, which may reflect differences in function, assembly or interaction of the 'hyperproliferative' or 'mucoregenerative' keratins from other major types of keratins. The mutations reported here are the first to describe the molecular pathology of focal non epidermolytic palmoplantar keratoderma.- - - - - - - - - - ranking = 4.1597383802829keywords = epidermolysis bullosa, epidermolysis, bullosa, simplex (Clic here for more details about this article) |
10/11. epidermolysis bullosa simplex herpetiformis of Dowling-Meara with mottled pigmentation: the relationship between EBS herpetiformis and EBS with mottled pigmentation.A 6-year-old girl with epidermolysis bullosa simplex (EBS) is described. Clinical features include generalized herpetiform blistering of the skin, healing without scars, intraoral blistering, nail dystrophy, palmoplantar keratoderma, and improvement with age. An unusual feature was the presence of a striking mottled pigmentation involving the arms, trunk, and legs. histology, immunofluorescence, and electron microscopy of a fresh lesion showed an intraepidermal split within the basal keratinocytes, focal hyperpigmentation of the basal cells without an inflammatory infiltrate, and tonofilament clumping. Our patient illustrates the clinical features of Dowling-Meara EBS with the pigmentary changes of EBS with mottled pigmentation. The relationship between EBS of Dowling-Meara and EBS with mottled pigmentation is discussed.- - - - - - - - - - ranking = 508.81054177096keywords = epidermolysis bullosa simplex, bullosa simplex, epidermolysis bullosa, epidermolysis, bullosa, simplex (Clic here for more details about this article) |
| | Next -> |