Foot Polydactyly and Polysyndactyly: Genetic Implications in Two Families

The purpose of this study was to determine the genetic characteristics of foot polydactyly and identify its inheritance pattern by analyzing familial pedigree. Five cases from 2 Korean families were studied: 1 is a family whose members have been affected for 4 generations and the other for 2 generations. Using peripheral blood samples, we performed chromosomal analysis using the banding technique with Giemsa stain and karyotyping. We investigated the shape and structure of 46 chromosomes, looking for translation, deletion, inversion, ring chromosome, and isochromosome abnormalities. All peripheral blood samples demonstrated no chromosomal abnormalities, though the genetic nature of foot polydactyly and a new genetic locus was identified recently by other studies. Familial pedigree analysis suggested that polydactyly was inherited as an autosomal dominant trait in the first family. The mode of inheritance for the second family could not be determined due to an insufficient number of family members. The result of this study brought us to the conclusion that, while genetic factors play a major role in polydactyly, other factors may contribute to its occurrence.     

Merkel Cell Carcinoma Arising from the Subcutaneous Fat of the Arm with Intact Skin

BACKGROUND: Merkel cell carcinoma is a rare malignant neuroendocrine neoplasm characteristically arising from the dermis of sunlight-exposed skin. It rarely arises outside the skin. OBJECTIVE: We present a patient with primary Merkel cell carcinoma arising from subcutaneous fat, with no involvement of the overlying skin. We describe the clinical manifestations and magnetic resonance imaging (MRI) findings. METHODS: We report a 63-year-old woman with a primary lesion of Merkel cell carcinoma that arose from the subcutaneous fat layer of the left arm. The lesion presented as a subcutaneous nodule with intact overlying skin. MRI showed that the nodular lesion was located entirely in the subcutaneous fat layer, with no involvement of the dermis. Peritumoral infiltration around the lesion and enlarged lymph nodes deep to the lesion were noted. The patient received wide excision of the lesion with dissection of the regional lymph nodes and adjuvant radiotherapy and chemotherapy. RESULTS: Histopathologic examination confirmed the diagnosis of Merkel cell carcinoma with local lymphatic metastasis, and the lesion was completely located in the subcutaneous fat, with no involvement of the dermis. These findings were well correlated with MRI findings. CONCLUSION: Primary Merkel cell carcinoma may arise from the subcutaneous fat and present as an entirely subcutaneous lesion with intact skin. MRI is helpful to evaluate the local extension of the lesion and regional lymphatic metastasis.     

Improvement of Atrophic Acne Scars with a 1,320 nm Nd:YAG Laser: Retrospective Study

Background. Facial acne scarring has been treated with multiple methods with varying degrees of improvement. Although the 1,320 nm neodymium:yttrium-aluminum-garnet (Nd:YAG) laser has been widely used to improve photoaging, studies analyzing its effects on atrophic acne scarring are limited.
Objective. To evaluate the efficacy of a dynamic cryogen-cooled 1,320 nm Nd:YAG laser for the treatment of atrophic facial acne scars in a larger cohort of patients with long-term follow-up.
Methods. Twenty-nine patients (skin phototypes I–IV) with facial acne scarring received a mean of 5.5 (range 2–17) treatments with a 1,320 nm Nd:YAG laser. Objective physician assessment scores of improvement were determined by side-by-side comparison of preoperative and postoperative photographs at a range of 1 to 27 months (mean 10.4 months) postoperatively. Subjective patient self-assessment scores of improvement were also obtained.
Results. Acne scarring was significantly improved by both physician and patient assessment scores. Mean improvement was 2.8 (  p < .05  ) on a 0- to 4-point scale by physician assessment and 5.4 (  p < .05  ) on a 0- to 10-point scale by patient assessment. No significant complications were observed.
Conclusions. Nonablative laser skin resurfacing with a 1,320 nm Nd:YAG laser can effectively improve the appearance of facial acne scars with minimal adverse sequelae.     

Association between cord blood IgE and genetic polymorphisms of interleukin-4, the β-subunit of the high-affinity receptor for IgE, lymphotoxin-α, and tumor Necrosis factor-α

High cord blood immunoglobulin E (cbIgE) is known to be associated with increased risks of atopic diseases in childhood. The relationship between genetic polymorphisms and high cbIgE has not been well documented. A cross-sectional study was conducted to assess the association between cbIgE and genetic polymorphisms of interleukin (IL)-4 -590C/T, the beta-subunit of the high-affinity receptor for IgE (FcepsilonRI-beta) E237G, lymphotoxin (LT)-alphaNcoI alleles, and tumor necrosis factor (TNF)-alpha -308G/A. A total of 320 mother-neonate pairs were recruited from four maternity hospitals from different locations of Taiwan. Cord blood was obtained and assayed for cbIgE. Polymerase chain reaction followed by restriction fragment length polymorphism was used to assess the genotypes. Three hundred pairs of mothers and neonates were included in the final analysis. Infants with IL-4 -590 C allele were found to have higher risk of elevated cbIgE (> or =0.35 IU/ml, 24.3%) (p = 0.004). After adjusting for gender, birth order, maternal age, and history of allergic disease in maternal and paternal families, odds ratios for CC and CT genotypes were 4.41 and 3.16 (95% confidence interval 0.78-22.67, and 1.66-6.13), respectively, using TT genotype as reference. The genotypes of FcepsilonRI-beta, LT-alpha, and TNF-alpha were not associated with cbIgE before or after the adjustment. Our finding suggested a significant association of cbIgE with genetic polymorphism of IL-4 -590C/T, but not with the genotypes of FcepsilonRI-beta, LT-alpha, and TNF-alpha.     

The laterally extended medial hemisoleus flap for reconstruction of a tibial wound in the distal third of the leg

A soleus flap as a local reconstructive option for soft-tissue coverage of a tibial wound in the distal third of the leg has never been well recognized. In a 2-year period, seven patients underwent reconstruction of a less extensive tibial wound (4 × 3 to 10 × 4 cm) in the distal third of the leg after orthopedic trauma with the laterally extended medial hemisoleus flap. The flap was elevated with emphasis on the preservation of the most distal perforators from the posterior tibial vessels to the flap as possible while allowing adequate rotation of the flap to cover the exposed tibia and/or hardware and on the possible preservation of foot planter flexion by reconstruction of the proximal Achilles’ tendon. In this series, there was no total or partial flap loss. All patients healed their tibial wounds primarily with reliable soft-tissue coverage, evidenced fracture healing, and good cosmetic outcome during follow-up. Thus, the laterally extended medial hemisoleus flap described by the author can be a reliable option for soft-tissue coverage of a less extensive tibial wound in the distal third of the leg. It offers a more cost-effective approach for managing this unique problem and can be performed by most reconstructive surgeons without microsurgical expertise.     

Chronic orchialgia: Consider gabapentin or nortriptyline before considering surgery

OBJECTIVE: To establish if there is a role for gabapentin or nortriptyline in the treatment of chronic orchialgia. METHODS: Twenty-six consecutive patients with chronic orchialgia were seen in the chronic pain clinic by a multidisciplinary team. A pain questionnaire was completed prior to commencing either gabapentin or nortriptyline. They were reviewed at 3 months and a repeat questionnaire completed. A 50% improvement in pain was considered successful. RESULTS: Complete data was available for 19 patients. Overall, 61.5% of patients commenced on gabapentin and 66.6% of patients commenced on nortriptyline had a greater than 50% improvement in pain. Patients with post-vasectomy testicular pain were considered as a subgroup. None of these patients had a greater than 50% improvement in pain. However, 80% of patients in the subgroup with idiopathic chronic orchialgia had a greater than 50% improvement in pain. CONCLUSION: Although this is a small study, it appears that gabapentin and nortriptyline are effective in the treatment of idiopathic chronic orchialgia but not post-vasectomy pain.     

Effects of Botulinum Toxin Type A on Contouring of the Lower Face

BACKGROUND: Masseteric muscle hypertrophy is an uncommon dition represented as a swelling of the masseter muscle. Recent reports have demonstrated the successful use of botulinum in the treatment of masseteric hypertrophy. OBJECTIVE: This study was a prospective trial to evaluate the effectiveness of botulinum toxin type A (Botox) in the treatment of masseteric muscle hypertrophy according to doses of 10, 20, and 30 U. MATERIALS AND METHODS: Twenty-two patients were referred to the dermatologic clinic for the management of masseteric muscle hypertrophy. Ultrasonographic measurements of the thickness of the masseter muscle were performed, and clinical photographs were taken before treatment and 1, 2, 3, 4, 6, and 9 months after the treatment. RESULTS. The median values of percentage reduction of muscle mass were 10.3%, 16.5%, 23.7%, 24.7%, 21.6%, 16.5% in the 10 U group; 11.9%, 18.8%, 24.8%, 27.7%, 26.7%, and 21.8% in the 20 U group; and 12.0%, 19.4%, 25.0%, 27.8%, 37.8%, and 24.1% in the 30 U group. CONCLUSION. The adequate dose of botulinum toxin type A for treatment of masseteric muscle hypertrophy should be above 20 U. The effect of botulinum toxin type A is maintained for at least 9 months as the treatment of masseteric muscle hypertrophy.