Genetic diagnosis for X-linked hypohidrotic ectodermal dysplasia family with a novel Ectodysplasin A gene mutation.

AIM: To make a gene diagnosis for a family with Ectodysplasin A (EDA) gene mutation as well as prenatal diagnosis, and report a novel EDA gene mutation. METHODS: All coding sequences and flanking sequences of EDA gene were analyzed by Sanger sequencing in the proband, and then, according to EDA gene mutation in the proband, the EDA gene sequencing was performed on the family members. Based on the results above, the pathogenic mutation in EDA gene was finally identified, which was used for making prenatal diagnosis. RESULTS: Sanger sequencing revealed c.302_303delCC [p.Pro101HisfsX11] mutation in EDA gene of the proband. This mutation induced EDA gene frame shift mutation which led to early termination of EDA gene translation because there was a termination codon TAA at the 11th codon behind the mutational site. Heterozygous deletion mutation (CC/--) at this locus was observed in the proband's mother and proband's grandmother, but the proband's aunt had no mutation at this locus. The analyses of amniotic fluid samples indicated negative sex-determining region on Y (SRY), and c.302_303delCC heterozygous deletion mutation. CONCLUSION: We identified a pathogenetic mutation in EDA gene for the X-linked hypohidrotic ectodermal dysplasia family, made a prenatal diagnosis for the female carrier, and reported a novel EDA gene mutation.

[Modified two-stage surgery for total auriculoplasty with autogenous rib cartilage].

OBJECTIVE: To introduce a modified surgery for total auriculoplasty and the experience in one hundred and forty-six cases (155 ears). METHODS: The procedure was a two-stage operation. The first stage involved fabrication and grafting of a costal cartilage framework. A U-shaped skin incision was made on the posterior edge of the lobule and the remnant ear cartilage was removed completely. The area for the insertion of the cartilage framework was undermined. Skin flaps were sutured after insertion of the cartilage framework. The second-stage surgery was usually performed six months after the first-stage operation. The reconstructed auricle was elevated, and a costal cartilage block was fixed to the posterior part of the auricle. A temporoparietal fascia flap was then used to cover the costal cartilage block. Finally, the posterior aspect of the projected auricle was covered with a spit-thickness skin graft. RESULTS: The incisions healed in one hundred and forty-one patients (150 ears) after the first stage operation. Partial necrosis of the postauricular flap was observed in five cases (5 ears) after the first stage operation, but no exposure or absorption of the cartilage took place. The skin grafts survived in one hundred and thirty-nine cases (147 ears) after the second-stage surgery. Partial necrosis of the skin graft was observed in seven cases (8 ears), but healed after one-week of dressing changes. Ninety-four cases (97 ears) were followed up, but fifty-two cases (58 ears) were lost to follow up. The follow-up at six months to two years showed satisfactory contour and projection of the constructed ears. CONCLUSION: This two-stage surgery is simple and ideal for auricloplasty with few complications.

[Combined superficial temporal fascial flap with free dermis-fat graft to reconstruct hemifacial atrophy].

OBJECTIVE: To introduce a method to reconstruct hemifacial atrophy (Romberg's disease). METHODS: Through a temporal incision, the compound grafts of pedicled superficial temporal fascial flap and free dermis-fat were inserted into the cheek to correct soft tissue depression on the face. The dermis-fat was harvested from gluteal crease site. RESULTS: 6 cases were treated with this technique. 3 to 10 months' follow-up showed satisfactory results and few resorption of the compound grafts. CONCLUSIONS: The mentioned technique is simple and reliable in reconstructing bulk defects of the face.

[Repairing the defects in the chest, back and axilla with a split-breast flap].

OBJECTIVE: To evaluate a method to repair the defects after the secondary tumor excision and radiation ulcer in the chest, back and axilla. METHODS: Eight patients, with the defects after the secondary tumor excision and the radiation ulcer in the chest, back and axilla, were undergoing the treatment. A "T" shape incision or up-side-down "T" shape incision was designed above the breast or along the inframammary fold below breast, just close to the defect. A split-breast flap was raised above the pectoralis major or deep fascia. The defect was then repaired with a rotating and advancing way. RESULTS: Eight patients were repaired in one stage. Blood circulation of the flaps was abundant except one with distal edge necrosis. The ptosis breast was corrected and the fullness of the chest wall was also achieved. But, the Nipple of the opposite health breast was lost the original position to the lateral or medial. CONCLUSIONS: The above-mentioned technique may be an efficient method to repair the defects after the secondary tumor excision and radiation ulcer in the chest, back and axilla. It is adapt to the old patients whose health is worse, but it is not good for the young patients resulted from the injury breast.

[Complication of polyacrylamide hydrogel injection for facial plasty].

OBJECTIVE: To investigate the causes of complications of polyacrylamide hydrogel injection for facial plasty and reliable treatments. METHODS: Eight patients were included in the study. Some of them were examined by MRI. All the patients received surgical treatments. RESULTS: The injected polyacrylamide hydrogel was found in the superficial layer of the superficial temporal fasica, the loose connective tissue below the deep temporal fascia, the subcutaneous tissue or the orbicularis muscle. Polyacrylamide hydrogel injected into the superficial layer of the superficial temporal fascia could spread to the face along the SMAS. Polyacrylamide hydrogel injected into the loose connective tissue below the deep temporal fascia could spread down to the cheek. The patients' symptoms were relieved with the operation. Satisfactory results were obtained. CONCLUSION: Polyacrylamide hydrogel injection does not adapt to facial plasty. The reliability of polyacrylamide hydrogel injection for facial plasty is in doubt.