1/222. Nevoid basal cell carcinoma syndrome.A case report of a young girl with nevoid basal cell carcinoma syndrome is presented. The patient showed cutaneous and skeletal findings characteristic of the syndrome. Multiple basal cell carcinomas, rib abnormalities, along with clinical evidence of frontal bossing and ocular hypertelorism were the primary features of the syndrome in this patient. It is suggested that other characteristics of the syndrome, such as jaw cysts, palmar and plantar pitting and calcification of the falx cerebri will develop as the patient grows older. Careful observation, particularly for medulloblastoma and malignant degeneration and invasiveness of basal cell carcinomas, will be an integral part of this young patient's care.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
2/222. Stress-induced SAPHO syndrome.We describe the case of a woman with the classic combination of features of synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome, including pustulosis palmo-plantaris and anterior chest wall involvement. The varying symptomology, etiology and pathogenesis of this syndrome and the contribution of stress are discussed. The authors ascribe the dearth of reported cases to lack of awareness and recognition of SAPHO, and not to the real incidence of the syndrome.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
3/222. Mutchinick syndrome in a Japanese girl.We report on a 7-year-old Japanese girl with Mutchinick syndrome, a rare congenital malformation syndrome described in a pair of Argentinean sisters and a pair of German brothers; both originating from the same geographic region in the former East prussia. The girl we describe had most of the clinical manifestations of the syndrome, including growth and developmental retardation, and craniofacial anomalies with microcephaly, hypertelorism, a broad straight nose, low-set malformed ears, and a wide, tented mouth. She also had the following hitherto undescribed manifestations: ventricular septal defect, palmoplantar hyperkeratosis, bilateral partial soft-tissue syndactyly of second and third toes, and megaloureters. The occurrence of the syndrome in a Japanese girl indicates that the syndrome is not restricted to the descendants of individuals from a confined region in northeastern europe.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
4/222. 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) |
5/222. X-linked mental retardation syndrome with seizures, hypogammaglobulinemia, and progressive gait disturbance is regionally mapped between xq21.33 and Xq23.We identified a family with three males in two generations with moderate mental retardation. The two oldest were first cousins whose mothers were sisters. The third affected was a grandson through a daughter of one of the sisters, strongly suggesting X- linked inheritance. The affected males had prominent glabella, synophrys, prognathism, generalized hirsutism, and bilateral single palmar creases. All developed seizures in childhood. The two oldest have had a slow deterioration in neurological status with poor gait and balance and progressive weakness. No deterioration in their mental status has been observed. The oldest had cerebellar atrophy confirmed on computed tomography and magnetic resonance imaging scans of the brain and prolonged nerve conduction velocity. Two of the males had hypogammaglobulinemia (IgA deficient). Two-point linkage analysis using 27 microsatellite markers on the x chromosome resulted in a maximum lod score of 2.23 at straight theta = 0 for locus DSX101. Recombination was observed at locus DSX1170 in Xq21.33 and locus DXS8067 in Xq23. We conclude that this family represents an X-linked disorder associated with a recognizable phenotype, progressive neurological deterioration, and variable hypogammaglobulinemia. The gene appears to lie between Xq21.33 and Xq23.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
6/222. Topical DMSO treatment for pegylated liposomal doxorubicin-induced palmar-plantar erythrodysesthesia.PURPOSE: Chemotherapeutic regimens that utilize fluorouracil, cytarabine, and doxorubicin have been shown to cause a dermatologic syndrome known as hand-foot syndrome, or palmar-plantar erythrodysesthesia syndrome (PPES). Pegylated liposomal doxorubicin has proven effective in the treatment of AIDS-related Kaposi's sarcoma, ovarian cancer refractory to platinum and paclitaxel therapies, and metastatic breast cancer. In a study of the treatment of refractory epithelial cell ovarian cancers with lipozomal doxorubicin utilizing intravenous doses of 50 mg/m(2) every 3 weeks, grade 3 PPES was observed in 29% of patients (10/35) and required dose reductions and/or dose delay after a median of three therapy cycles. methods: Current methods to prevent pegylated liposomal doxorubicin-induced PPES include dose reduction, lengthening of the drug administration interval and ultimately, drug withdrawal. Topical 99% dimethylsulfoxide (DMSO) also has shown strong activity in treating tissue extravasation reactions during intravenous administration of doxorubicin. RESULTS: Two patients undergoing chemotherapy with pegylated liposomal doxorubicin, 50 mg/m(2) every 4 weeks, developed grade 3 PPE after three cycles. Their PPES resolved over a period of 1 to 3 weeks while receiving topical 99% DMSO four times daily for 14 days. CONCLUSIONS: While these results are promising, patients must be treated in a prospective study of this topical DMSO formulation to definitively document its therapeutic efficacy.- - - - - - - - - - ranking = 5keywords = palm (Clic here for more details about this article) |
7/222. brachydactyly type B: case report and further evidence for clinical heterogeneity.We present a male child with digital and radiographic findings consistent with brachydactyly type B. His left hand had 2-4 syndactyly, shortened first and fifth digits and single palmar and fifth finger flexion creases. The nail on the second finger was hypoplastic. The right hand had a small thumb and curving of the second finger towards the midline. The left foot had a short left hallux with an absent nail, 2-4 syndactyly and an absent toe. His right foot had a short, dorsiflexed hallux with a hypoplastic nail, 2-3 syndactyly and an overlapping toe. Radiographs showed asymmetrical hypoplasia of the middle and terminal phalanges and there were no extra-articular findings to suggest Sorsby syndrome. brachydactyly type B has classically been described as hypoplasia or absence of the terminal phalanges with absent nails. Although other digital anomalies have previously been described with brachydactyly type B, the absent digit, atypical syndactyly and marked asymmetry in this child make this case a good illustration of the clinical heterogeneity that can be associated with this type of brachdactyly. We provide a brief review of syndromes in which similar digital malformations have been reported.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
8/222. Dominant inheritance of cleft palate with minor abnormalities of hands and feet: a new syndrome?We report a family in which four members of three generations are affected by median cleft palate. The proband and her mother have additional features including bilateral single transverse palmar creases, broad great toes and hypoplastic fifth toenails. Dominant isolated cleft palate has rarely been reported, and there are no previous reports of dominant cleft palate with these associated features. We believe that this represents a previously unreported syndrome, which needs to be considered when assessing recurrence risk for cleft palate.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
9/222. A Laugier-Hunziker syndrome associated with esophageal melanocytosis.A 62-year-old Japanese woman came to our clinic because of melanotic macules on the lip, palatoglossal arch, lingual margin and palm. Endoscopic examination revealed a melanotic macule on the midesophageal mucosa but no polyposis in the gastrointestinal tract. Histologically, the specimens taken from the labial, esophageal and palmar lesions showed an acanthosis and basal hyperpigmentation in the epithelium. The patient had not taken any medication which could lead to pigmentation. As far as we know, this is the first case report of an esophageal melanocytic macule which occurred in a patient with Laugier-Hunziker syndrome. When confronted with an isolated pigment spot, we emphasize the necessity of systematic examinations for others. Because the pathologic relationship between Laugier-Hunziker syndrome and the esophageal melanocytic lesion is not proven, further studies should clarify this issue.- - - - - - - - - - ranking = 2keywords = palm (Clic here for more details about this article) |
10/222. A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350).We report a missense mutation in the connexin 26 gene (GJB2) in a family with an autosomal dominant syndrome of hearing loss and hyperkeratosis. The affected family members have high frequency, slowly progressive, bilateral, sensorineural hearing loss and palmoplantar hyperkeratosis. The mutation causes an amino acid substitution (G59A), which may disrupt a reverse turn in the first extracellular loop of connexin 26. Connexin 26 mutations have been reported in syndromes of deafness and palmoplantar keratoderma. These data provide additional evidence for the role of connexin 26 in syndromes of this type.- - - - - - - - - - ranking = 6keywords = palm (Clic here for more details about this article) |
| | Next -> |