1/68. Generalized granuloma anulare in a 15-month-old infant.A Japanese girl aged 15 months had an eruption of 3 months' duration on the face, trunk, and extremities except for the palms and soles. The lesions were infiltrated papules varying from 2 to 3 mm in diameter. blood eosinophilia of 5% was demonstrated. skin biopsy specimen revealed a necrobiotic palisading granuloma in the corium. All lesions began to subside after 1 weeks' administration of oral corticosteroid and completely involuted in 2 months. A possible etiologic role of insect bites was considered.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
2/68. A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1.pachyonychia congenita type 1 (PC-1) is an autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy, focal non-epidermolytic palmoplantar keratoderma and variable features of oral leukokeratosis and follicular keratosis. Previously, we have shown that this disease can be caused by mutations in type I keratin K16 and one mutation has been reported in its type II keratin expression partner, K6a. mutation analysis for K6a has been hampered by the presence of multiple copies of the K6 gene in the human genome, of which some are expressed and others are pseudogenes. Here, we describe a mutation detection strategy where the entire KRT6A gene, approximately 7 kb, is specifically amplified by long-range PCR. Using this technique, we have detected two novel mutations in the 1A domain of the K6a polypeptide, N171K and F174S. Mutations were confirmed in the affected individuals and were excluded from 50 unaffected unrelated individuals by restriction enzyme analysis of KRT6A PCR products. Additionally, mutation N171K was confirmed by RT-PCR in mRNA derived from lesional palmoplantar epidermis of an affected individual, confirming the specificity of the genomic PCR for the functional K6a gene. This, together with a similar strategy which we have developed for the K16 gene, provide a robust system for mutation detection and prenatal diagnosis for patients with PC-1.- - - - - - - - - - ranking = 2keywords = palm (Clic here for more details about this article) |
3/68. Identification of sporadic mutations in the helix initiation motif of keratin 6 in two pachyonychia congenita patients: further evidence for a mutational hot spot.pachyonychia congenita (PC) is a rare, autosomal dominant, ectodermal dysplasia characterized most distinctly by the presence of symmetric nail hypertrophy. In the Jadassohn-Lewandowsky form, or PC-1, additional cutaneous manifestations may include palmoplantar hyperkeratosis, hyperhidrosis, follicular keratoses, and oral leukokeratosis. Mutations have previously been identified in the 1A helix initiation motif of either keratin 6 or keratin 16 in patients with PC-1. In the current study, we have identified 2 sporadic, heterozygous mutations in the 1A helix region of the K6 isoform (K6a). The first mutation identified was a 3 base pair deletion (K6adelta N171). The second mutation was a C-to-A transversion resulting in an amino acid substitution (K6a N171K). These data, in combination with previous reports, provide further evidence that this location is a mutational hot spot.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
4/68. Wrinkly skin syndrome: ultrastructural alterations of the elastic fibers.We report the clinical and pathologic features of a patient with wrinkly skin syndrome. The essential clinical features were wrinkly skin with poor elasticity over the abdomen and on the dorsum of the hands and feet, increased palmar and plantar creases, and a prominent venous pattern over the chest. On light microscopy, histopathologic findings included appreciable heterogeneity in the structure, amount, and distribution pattern of elastic fibers. agglutination and fragmentation of the microfibrillar component and a remarkable decrease in elastin were the major ultrastructural features. The differential diagnosis with other connective tissue disorders is discussed.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
5/68. A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus.Palmoplantar keratodermas are a group of heterogeneous diseases characterized by thickening, and marked hyperkeratosis, of the epidermis of the palms and soles. Palmoplantar keratodermas can be divided into four major classes: diffuse, focal, punctate, and palmoplantar ectodermal dysplasias. All forms are genetic diseases inherited as autosomal dominant disorders. We studied a patient exhibiting a localized thickening of the skin in parts of the right palm and the right sole, following Blaschko's lines, that does not fit into any classes already described. We sequenced the keratin 16 cDNA derived from skin biopsy material from affected and non affected palms. The keratin 16 cDNA sequence from lesional epidermis showed a 12 base pair deletion (309-320del), which deletes codons 104-107. The mutation is predicted to delete four amino acids, GGFA, from the V1 domain of the keratin 16 polypeptide, close to the 1A domain. Full-length keratin 16 cDNA sequence derived from the unaffected palm was completely normal, consistent with a postzygotic mutation as is suggested by the mosaicism observed. We defined this new clinical entity, "unilateral palmoplantar verrucous nevus", rather than localized or focal epidermolytic palmoplantar keratodermas, as the lesions are present only on one side of the body and follow Blaschko's lines. This study is a report of a mosaic mutation in keratin 16 and also the association of a mutation in the V1 domain of a type I keratin associated with a human disease.- - - - - - - - - - ranking = 11keywords = palm (Clic here for more details about this article) |
6/68. A case of giant pencil-core granuloma.Although pencil injury is a common occurrence, only six cases of so-called pencil-core granuloma have been reported. All of these granulomas were relatively small, and most of them simulated malignant melanoma. We report a giant pencil-core granuloma that developed on a patient's right palm. Its gross appearance was quite different from that of other cases previously reported; it was much larger and resembled a hemangioma.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
7/68. Autosomal dominantly inherited generalized basaloid follicular hamartoma syndrome: report of a new disease in a north carolina family.BACKGROUND: An 8-year-old girl presented with hundreds of milia, measuring 1 to 2 mm; comedone-like lesions; skin-colored and hyperpigmented papules on the face, scalp, ears, neck, upper trunk, and lower arms along with diffuse scalp hypotrichosis; and pinpoint palm/sole pits. Onset was in early childhood and the disease was historically present in 6 generations. OBJECTIVE: Our objectives were to delineate the clinical and histopathologic features and mode of inheritance as a base for gene studies. methods: Eighteen family subjects were studied. Twenty-six skin biopsy specimens were examined. A detailed pedigree was constructed. A complete literature search was done concerning diseases with generalized basaloid follicular hamartomas. RESULTS: The lesions were basaloid follicular hamartomas and other folliculocentric abnormalities. Inheritance was autosomal dominant. Extensive literature search confirmed the finding of a unique genodermatosis. CONCLUSION: A new genodermatosis termed dominantly inherited generalized basaloid follicular hamartoma syndrome was defined by delineating its clinical and histopathologic features and mode of inheritance and by extensive literature review.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
8/68. Eruptive vellus hair cyst and epidermoid cyst in a patient with pachyonychia congenita.We report the first case of pachyonychia congenita (PC) associated with both eruptive vellus hair cyst (EVHC) and epidermoid cyst. The patient is a 12-year-old Japanese girl who presented with two natal teeth at birth. She had thickening and discoloration of the fingernails and toenails, plantar hyperkeratosis, palmar-plantar hyperhidrosis and multiple cutaneous cysts. Histologic examination revealed EVHC and epidermoid cyst.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
9/68. skin and nail changes in children with sickle cell anemia receiving hydroxyurea therapy.skin and nail changes from long-term hydroxyurea therapy are reported in adults. skin and nail changes, including nail hyperpigmentation, longitudinal bands, and hyperpigmentation of the palms and other skin surfaces, developed in 7 children with sickle cell anemia after 6 to 16 weeks of hydroxyurea therapy. Cutaneous and nail changes may occur in children receiving hydroxyurea.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
10/68. The definition of trichophyton rubrum syndrome.Although chronic widespread dermatophyte infection is reported widely in the literature, neither a uniform nomenclature, nor even a clear definition of this syndrome have been established so far. Thus, we suggest trichophyton rubrum syndrome (TRS) for denomination and define the following obligatory clinical and mycological criteria for TRS. (A) skin lesions at the following four sites: (1) feet, often involving soles; (2) hands, often involving palms; (3) nails; and (4) at least one lesion in another location than (1) (2) or (3), except for groins. (B) Positive microscopic analyses of potassium hydroxide preparations of skin scrapings in all four locations. (C) Identification of trichophyton rubrum by cell culture at three of the four locations at least. For diagnosis of TRS the criteria (A) and (B) and (C) have to be fulfilled. This standardization is a prerequisite for further investigations of underlying mechanisms of this disease. The typical clinical pattern of TRS is illustrated by the presentation of two paradigmatic cases.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
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