1/8. A boy with developmental delay, malformations, and evidence of a connective tissue disorder: possibly a new type of cutis laxa.We report a 7.5-year-old boy with loose translucent skin, aortic dilatation, hyperextensible veins, recurrent respiratory problems, pectus excavatum, arthralgias, lax joints, mild epiphyseal dysplasia, and umbilical and inguinal hernias. He also has developmental delay, progressive bilateral sensorineural hearing loss, an unusual facial appearance, terminal digit hypoplasia with unusual radiographic changes in some of the phalanges, glandular hypospadias, shawl scrotum, and undescended testes. Biochemical investigations, including electrophoresis of Types 1 and 3 procollagens and collagens, and quantification of serum copper and ceruloplasmin, are normal. Relative to age-matched control patients the electron micrographs of the boy's dermis show elastin fibers to be decreased in number, and abnormal in appearance, with a low matrix to microfibril ratio. The organ distribution of abnormalities and the nature of the findings suggest a connective tissue disorder. We contrast and compare this boy's phenotype to those of the classic connective tissue disorders. We conclude that he has cutis laxa with features that distinguish him from previously described types of cutis laxa.- - - - - - - - - - ranking = 1keywords = cutis laxa, laxa, cutis (Clic here for more details about this article) |
2/8. Elastosis perforans serpiginosa secondary to D-penicillamine therapy with coexisting cutis laxa.Elastosis perforans serpiginosa (EPS) is a rare complication of D-penicillamine therapy. EPS has been reported in patients with Wilson disease, cystinuria, and rheumatoid arthritis after many years of high-dose therapy. We report a case of D-penicillamine-induced EPS with coexisting acquired cutis laxa in a patient with cystinuria. Although both EPS and acquired cutis laxa can be associated with D-penicillamine therapy, few cases have been reported with overlapping clinical presentations, and previously only in patients with Wilson disease. We review the characteristic clinical and histologic features of EPS and discuss the potential dermatologic manifestations of D-penicillamine therapy.- - - - - - - - - - ranking = 1keywords = cutis laxa, laxa, cutis (Clic here for more details about this article) |
3/8. Variable clinical presentation of cutis laxa.We present 2 families with 4 individuals suffering from congenital cutis laxa. family A has a single affected male child with developmental delay and ligamentous laxity, making this only the second male of the total 15 patients so far reported with this particular syndrome. family B has 3 affected males, 2 of whom have significant involvement of other systems. Only one of the 4 affected children had very obvious loose skin folds and dependency on this clinical feature alone could result in under-diagnosis of this disease. The clinical features and family pedigree information suggests recessive inheritance in family B but the mode of inheritance in family A is inconclusive.- - - - - - - - - - ranking = 0.83333333333333keywords = cutis laxa, laxa, cutis (Clic here for more details about this article) |
4/8. cutis laxa, intrauterine growth retardation, and bilateral dislocation of the hips: a report of five cases.Five infants and children with cutis laxa, growth retardation and bilateral dislocation of the hips occurring in three families in saudi arabia are described. Their presentations are compared to previously described cases. The children are the outcome of highly consanguinous marriages. The mode of inheritance is most probably autosomal recessive.- - - - - - - - - - ranking = 0.090742021337038keywords = laxa (Clic here for more details about this article) |
5/8. Pachydermodactyly and atrophia maculosa varioliformis cutis.Pachydermodactyly is a rare form of superficial digital fibromatosis characterized by progressive asymptomatic thickening of the back and sides of the proximal interphalangeal joints of the fingers. Atrophia maculosa varioliformis cutis is an acquired dermal atrophy, localized on the cheeks. Only a few cases of each pathology have been published. We find it interesting to report the case of a patient with both conditions as these two connective-tissue diseases are very rare. The association is probably fortuitous.- - - - - - - - - - ranking = 0.010983764966424keywords = cutis (Clic here for more details about this article) |
6/8. D-penicillamine-induced elastosis perforans serpiginosa and localized cutis laxa in a patient with Wilson's disease.A patient with Wilson's disease who developed elastosis perforans serpiginosa and localized cutis laxa during prolonged treatment with D-penicillamine is described. Induction of elastosis perforans serpiginosa and of cutis laxa by D-penicillamine may be due to a similar mechanism.- - - - - - - - - - ranking = 1keywords = cutis laxa, laxa, cutis (Clic here for more details about this article) |
7/8. adult T-cell leukemia/lymphoma associated with noninfectious epithelioid granuloma in the skin: a clinicopathologic study.Hodgkin's disease (HD) and non-Hodgkin's lymphoma (NHL) are infrequently associated with noninfectious granulomas in involved or noninvolved organs. adult T-cell leukemia/lymphoma (ATLL) is an aggressive lymphoproliferative neoplasm associated with T-lymphotropic virus type 1 (HTLV-1). We describe a case of cutaneous type ATLL, affecting mainly the skin as a maculopapular eruption, in which some skin biopsies contained epithelioid cell granulomas in the lymphoma cutis (ATLL) lesion. These Lennert's-like epithelioid clusters were also present in lymph nodes, which showed some degree of invasion by the ATLL lymphocytes. Although prognosis of ATLL is generally poor, our patient has had a less aggressive course, with a survival time to date of 13 years. Our findings suggest that the presence of epithelioid granulomata in an ATLL patient may be a manifestation of a host response which confers some protection against the disease progression. To our knowledge, this is the first report of a case of ATLL with a noninfectious granuloma similar to a Lennert's lesion.- - - - - - - - - - ranking = 0.0021967529932848keywords = cutis (Clic here for more details about this article) |
8/8. Congenital plate-like osteoma cutis of the forehead: an atypical presentation form.Cutaneous ossifications or osteoma cutis can be found in many syndromes. Primary osteoma cutis, present since birth or the first months of life, in the absence of metabolic disorders or trauma, is found in congenital plate-like osteoma cutis and progressive osseous heteroplasia, coexisting in the latter with deep connective tissue ossifications. This report documents the case of a 7-year-old female with a plate-like cutaneous ossification of the forehead causing aesthetic deformities. Other dermal ossifications in the inguinal and preauricular region, as well as the left hand and a small focus in the extraocular muscles of the left orbit, were also present. These lesions did not show progression, and most of them were present since birth. The lesion of forehead was treated surgically. The lack of progression and the fact that the orbital lesion was solitary still fits the criteria for the diagnosis of plate-like osteoma cutis. Plate-like osteoma cutis and progressive osseous heteroplasia may represent varieties of the same disorder.- - - - - - - - - - ranking = 0.019770776939563keywords = cutis (Clic here for more details about this article) |