Reconstruction of a Scrotum by Combining Two Skin Flaps in a Ball Shape.

Background: The scrotum functions to maintain spermatogenesis and hormonal production of Leydig cells by preventing the testicles from rising in temperature and protecting them from the outside world. The scrotum, along with the penis, is also an organ that symbolizes masculinity. Therefore, deformity or loss of the scrotum can be a major psychological problem. Various scrotal reconstruction techniques have been reported. In these papers, there is some discussion about the type of skin flap, but little discussion about the method of suturing the skin flap. We devised a way to reconstruct a scrotum to a natural size by suturing two skin flaps together to form a ball shape. Case Presentation. Case 1 was a patient with a missing scrotum due to Fournier's gangrene. Total resection of the scrotum, including the bilateral testes, was performed to save his life. Reconstructive surgery was performed 11 days after the initial surgery. Reconstruction was performed using bilateral gluteal fold flaps. Case 2 was a patient with a congenital defect of the scrotum. The testis on the right side exhibited cryptorchidism, and the scrotum was missing, and the testis on the left side was encased in a hypoplastic scrotum. Reconstruction was performed using an internal pudendal artery perforator flap. Conclusion: There are two types of scrotal defects: those with testes present and those with testes missing. This method can be used for both types of scrotal defects, and we were able to create a scrotum that satisfied each patient.

Distal nail embedding treatment using autogenous nails.

A regrowing nail tip after nail avulsion may excessively curve and invaginate into the nail bed. This is treated as a type of ingrown toenail, and is known as distal nail embedding. In most cases, further growth restores the original shape evenly over the nail bed. However, it is often painful and such cases may require treatment. We report a surgical approach that we applied to six cases of distal nail embedding involving pain or deformity of nails caused by a nail tip invaginating into the nail bed and/or cessation of forward nail growth. As our method involves removing a portion of the embedded tip edge nail and inserting the removed nail into the remaining depressed portion, the nail can grow over the bulge. In all six patients in whom we applied this method, the pain and nail deformity resolved and there was no recurrence. We used autogenous nails, which can reduce the pressure imbalance on a nail bed, and this contributed to improving the morphology of nails and nail beds. In addition, the risk of a hypertrophied nail is reduced because half of the nail adheres to the nail bed. Special materials are unnecessary and this method can be conducted with simple outpatient department procedures. There were no cases of a fixed nail section detaching due to a bulge at the nail tip. The inserted nail was maintained in all cases for several months until the nail grew over the bulge.

Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.

Mutations in the interferon regulatory factor 6 gene (IRF6) cause either popliteal pterygium syndrome (PPS) or Van der Woude syndrome (VWS), allelic autosomal dominant orofacial clefting conditions. To further investigate the IRF6 mutation profile in PPS, we performed mutation analysis of patients from two unrelated Japanese families with PPS and identified mutations in IRF6: c.251G>T (R84L) and c.1271C>T (S424L). We also found R84L, which together with previous reports on R84 mutations, provided another line of evidence that both syndromes could result from the same mutation probably under an influence of a modifier gene(s). This supports the idea that the R84 residue in the DNA binding domain of IRF6 is a mutational hot spot for PPS. A luciferase assay of the S424L protein in the other family demonstrated that the mutation decreased the IRF6 transcriptional activity significantly to 6% of that of the wild-type. This finding suggests that the C-terminus region of IRF6 could have an important function in phosphorylation or protein interaction. To our knowledge, this is the first report of mutations observed in Japanese PPS patients.

A consecutive case review of orbital blowout fractures and recommendations for comprehensive management.

BACKGROUND: The orbital blowout fracture is a common facial injury, but full consensus has not been reached regarding its optimal management. The authors retrospectively explored consecutive cases of blowout fractures and proposed new recommendations for treatment. METHODS: Two hundred eight newly registered patients were selected from the database of Nagasaki University Hospital over the past 5 years. One hundred nine patients in the authors' department were then reviewed regarding computed tomographic classification of fracture types, preoperative complaints, and outcomes. RESULTS: Of the 208 patients reviewed, 43 underwent surgical repair: 37 for diplopia and 14 for enophthalmos, including eight patients who were treated for both conditions. Regarding floor fractures, the punched-out type fracture was the most common, but the burst type was associated with the highest likelihood of undergoing surgery. For medial wall fractures, the punched-out type dominated, but the overall operative incidence was lower than that observed for the floor fractures. For diplopia, more than half of the operations were performed within 2 weeks, but only two cases were performed within 3 days. For enophthalmos, over 60 percent of operations were carried out after 1 month. Two cases, later discovered to involve muscle strangulation, continued to demonstrate residual diplopia in ordinary use, and two patients continued to show enophthalmos. However, overall outcomes were considered satisfactory. CONCLUSIONS: If computed tomographic findings disclose a linear fracture with muscular strangulation, urgent surgery must be performed. However, for linear fractures without impaction of the muscle, or punched-out or burst type fractures, close observation for days may be appropriate. In addition, surgical intervention can be performed electively when diplopia persists for several days of observation.

A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene.

BACKGROUND: Two types of cerumen occur in humans: the wet type with brownish, sticky earwax, and the dry type with a lack of or reduced ceruminous secretion. The wet type is common in populations of European and African origin, while the dry type is frequently seen in Eastern Asian populations. An association between axillary odor and the wet-type earwax was first identified approximately 70 years ago. The data were based on a phenotypical analysis of the two phenotypes among the Japanese by a researcher or by self-declaration of the subjects examined, and were not obtained using definite diagnostic methods. Recently, we identified a single-nucleotide polymorphism (SNP; rs17822931) of the ABCC11 gene as the determinant of the earwax types. In the present study, to determine whether the SNP can serve as a diagnostic marker for axillary osmidrosis (AO), we examined genotypes at rs17822931 in 79 Japanese AO individuals. AO was defined here as a clinical condition of individuals with a deep anxiety regarding axillary odor and had undergone the removal of bilateral axillary apocrine glands. RESULTS: A comparison of the frequencies of genotypes at rs17822931 in the 79 AO individuals and in 161 Japanese from the general population showed that AO was strongly associated with the wet earwax genotype. A total of 78 (98.7%) of 79 AO patients had either the GG or GA genotype, while these genotypes were observed in 35.4% (57/161) of the subjects from the general population (p < 1.1 x 10(-24), by Fisher's exact test). CONCLUSION: The strong association between the wet-earwax associated ABCC11-genotypes (GG and GA) and AO identified in this study indicates that the genotypes are good markers for the diagnosis of AO. In addition, these results suggest that having the allele G is a prerequisite for the axillary odor expression. In other words, the ABCC11 protein may play a role in the excretory function of the axillary apocrine gland. Together, these results suggest that when an AO individual visiting a hospital is diagnosed with dry-type earwax by ABCC11-genotyping, surgical removal of their axillary glands may not be indicated.

Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family.

Hereditary congenital ptosis (PTOS) is defined as drooping of the upper eyelid without any other accompanying symptoms and distinguished from syndromic blepharoptosis. Two previous linkage analyses assigned a PTOS locus (PTOS1) to 1p32-p34.1 and another (PTOS2) to Xq24-q27.1. In addition, in a sporadic case with a balanced chromosomal translocation t(1;8) (p34.3;q21.12), the ZFHX4 (zinc finger homeodomain 4) gene was found to be disrupted at the 8q21.12 breakpoint, but there was no gene at the 1p34.3 breakpoint, suggesting the existence of the third PTOS locus (PTOS1) at 8q21.12. We carried out a genome-wide linkage analysis in a Japanese PTOS family and calculated two-point and multipoint log of odds (LOD) scores with reduced penetrance. Haplotype analysis gave three candidate disease-responsible regions, i.e., 8q21.11-q22.1, 12q24.32-q24.33, and 14q21.1-q23.2. Although the family size is too small to define one of them, 8q21.11-q22.1 is a likely candidate region, because it contains the previously reported translocation breakpoint above. We thus performed mutation, Southern-blot and methylation analyses of ZFHX4 but could not find any disease-specific change in the family. Nevertheless, our data may support the localization of PTOS1.

Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.

Duane syndrome is a congenital eye movement disorder characterized most typically by absence of abduction, restricted adduction, and retraction of the globe on attempted adduction. Duane syndrome can be coinherited with radial ray anomalies as an autosomal dominant trait, referred to as "Okihiro syndrome" or "Duane radial ray syndrome" (DRRS). We ascertained three pedigrees with DRRS and mapped their disease gene to a 21.6-cM region of chromosome 20 flanked by markers D20S888 and D20S102. A new member of the SAL family of proposed C(2)H(2) zinc finger transcription factors, SALL4, falls within the region. Mutation analysis of SALL4 in the three pedigrees revealed one nonsense and two frameshift heterozygous mutations. SALL4 represents the first identified Duane syndrome gene and the second malformation syndrome resulting from mutations in SAL genes and likely plays a critical role in abducens motoneuron development.