1/9. 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 = 1keywords = palm (Clic here for more details about this article) |
2/9. 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 = 0.090909090909091keywords = palm (Clic here for more details about this article) |
3/9. Cutaneous mesenchymal hamartoma in the palm.A case of congenital, solitary, cutaneous mesenchymal hamartoma in the palm of the left hand is reported. The mass was composed mainly of an intimate mixture of fibrocollagenous bundles and islands of mature fat cells, distorted blood vessels with smooth muscle in the wall, and eccrine sweat glands. Many mast cells were scattered throughout the fibrocollagenous bundles. The mast cell may be an important cell in this hamartoma.- - - - - - - - - - ranking = 0.45454545454545keywords = palm (Clic here for more details about this article) |
4/9. Porokeratotic eccrine ostial and dermal duct nevus.We report 2 cases of congenital porokeratotic eccrine nevus in a 5-year-old girl and a 7-year-old boy. The clinical manifestations were those of nevus comedonicus palmaris. The histologic picture consisted of comedo-like dilatations and cornoid lamellae involving the eccrine ostia and ducts. One of the cases showed anomalies in the dermal eccrine ducts. We believe that these lesions are eccrine hamartomas unrelated to porokeratosis. We review similar cases from the literature and discuss the differential diagnosis.- - - - - - - - - - ranking = 0.090909090909091keywords = palm (Clic here for more details about this article) |
5/9. Fibrolipomatous hamartoma of the median nerve.A case of fibrolipomatous hamartoma of the median nerve is presented. The operative findings were characteristic. The diagnosis should be confirmed by histological examination of a biopsy from an involved palmar cutaneous branch, and treatment should be limited to decompression of the ligament or fascia over the involved area.- - - - - - - - - - ranking = 0.090909090909091keywords = palm (Clic here for more details about this article) |
6/9. An unusual "giant" lipofibroma in the palm.A case is described of an unusually large lipofibromatous hamartoma arising from the tendon sheath of flexor pollicis longus.- - - - - - - - - - ranking = 0.36363636363636keywords = palm (Clic here for more details about this article) |
7/9. proteus syndrome.proteus syndrome is a rare hamartomatous syndrome with a variety of abnormalities. A 6-year-old Japanese boy without apparent abnormalities at birth developed by 1 year of age cerebriform skin tumors on the right sole, soft masses on the left sole, palms and fingers, brownish verrucous lesions and whorled brownish patches on the right side of the neck, chest, external genitals and extremities, hemihypertrophy of the right lower extremity, lordoscoliosis, protuberance of the skull, epileptic seizures, hydrocephalus and mental retardation. This patient appears to be the second Japanese case of proteus syndrome.- - - - - - - - - - ranking = 0.090909090909091keywords = palm (Clic here for more details about this article) |
8/9. Isolated collagenoma: a case report with a review of connective tissue nevi of the collagen type.A 22-year-old male had had five skin colored tumorous growths on the mid-palm, ring and little fingers of the right hand for the last 15 years. Histopathological examination with hematoxylin and eosin and special stains confirmed the diagnosis of connective tissue nevi of collagen type. There were no associated cutaneous or systemic findings; thus the case was designated as isolated collagenoma. A review of connective tissue nevi of the collagen type is presented.- - - - - - - - - - ranking = 0.090909090909091keywords = palm (Clic here for more details about this article) |
9/9. Palmar cutaneous hamartoma.We report a case of a complex hamartomatous lesion of the skin which presented in a 75-year-old woman as a painful nodule of the palm. histology showed eccrine glands, fat, angiomatous vessels, and neurovascular glomic-like bodies, variously admixed and immersed in a cellular, fibroblastic stroma. The name palmar cutaneous hamartoma is proposed for this unusual lesion.- - - - - - - - - - ranking = 0.18181818181818keywords = palm (Clic here for more details about this article) |