No abstract available.
Epidermolysis Bullosa* ; Epidermolysis Bullosa, Junctional*

We have experienced a case of congenital pyloric atresia associated with epidermolysis bullosa in a premature newborn who was born at the gestation period of 33+3 week. She showed a few blisters on left ankle at birth and the easy formation of blisters involving the area of trauma or friction with depigmentation after healing. The histologic finding of the lesion showed junctional epidermolysis bullosa. Abdominal roentgenographic finding on day 2 showed single bubble sign. That suggested pyloric atresia. It was confirmed by upper gasrtointestinal series radiography and corrected by surgery, gastrojejunostomy on day 16. She discharged on day 50. The severity of the formation of blisters decreased but the poor weight agin became the main problem. The brief review of literatures was made.
Ankle ; Blister ; Epidermolysis Bullosa* ; Epidermolysis Bullosa, Junctional ; Friction ; Gastric Bypass ; Humans ; Infant, Newborn ; Parturition ; Pregnancy ; Radiography

Epidermolysis bullosa (EB) has three distinctive types, of which junctional EB has been known to be associated with pyloric atresia (PA) usaually. PA is a congenital disease of gastric outlet obstruction, known to occur at a rate of 1 per million live-births. It may occur independently or in combination with other congenital disorders such as EB. Dozens of cases of this combined disease have been reported since 1972 and autosomal recessive patterns have recently been revealed. This, junctional epidermolysis bullosa with pyloric atresia, has poor prognosis. Bullous, erupted cutaneous manifestations have recurrent, persistent characteristics and causes extracutaneous manifestations such as electrolyte imbalance, protein-loosing enteropathy, failure to thrive, and sepsis. In some cases, this syndrome may have obstructive uropathy and give it bad results also. For these reasons, physicians should be careful to avoid minor trauma on the skin and need to make meticulous decisions in operative correction about obstrutive gastrointestinal lesion or uropathy. We report a case of 3-day-old male baby, junctional epidermolysis bullosa with pyloric atresia.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Epidermolysis Bullosa ; Epidermolysis Bullosa, Junctional* ; Failure to Thrive ; Gastric Outlet Obstruction ; Humans ; Male ; Prognosis ; Sepsis ; Skin

This is a report of a case of a 6-year-old boy who came in due to generalized crusted erosions. His condition started at 2 days of age as appearance of tense vehicles which progress into bullae on normal or erythematous base after mild trauma on the extremities and later become generalized. The vesicles would become ersosions and crusts and heal with minimal residual scarring. As old lesions heal, new vesicles would appear. Nikolsky and Asboe-Hansen signs were negative. No extracutaneous or mucosal involvement was noted. Family history revealed that all of his five siblings had appearance of similar vesicobullous lesions few days after birth. Four of them died during the first six months of life. The older surviving sister, now age 10, showed gradual improvement of the condition as she grew older.Paternal and maternal family histories have no similar lesions. Skin punch biopsy revealed a subepidermal blistering disease. Direct and indirect immunofluoroscence were negative, consistent with generalized atrophic benign epidermolysis bullosa. Treatment of this disorder remains elusive. Management is focused mainly in the prevention of trauma as well as supportive measures. Patient education and genetic counseling are also cornerstones of management as in any genetic disorder. Advances in prenatal testing and gene therapy provide hope for early diagnosis and intervention.

Human ; Male ; Child ; Biopsy ; Blister ; Chiroptera ; Cicatrix ; Death ; Early Diagnosis ; Epidermolysis Bullosa, Junctional ; Genetic Counseling ; Genetic Therapy ; Siblings ; Skin ; Wound Healing

OBJECTIVE: Preimplantation genetic diagnosis (PGD) is reserved for couples with a risk of transmitting a serious and incurable disease, and hence avoids the undesirable therapeutic abortion. Herein, we report the result of PGD to carriers at risk of transmitting ornithine transcarbamylase (OTC) deficiency, junctional epidermolysis bullosa (EB) and lactic acidosis (LA) due to defect of pyruvate dehydrogenase alpha1 gene, respectively. METHODS: The ovarian stimulation, oocyte retrieval and ICSI procedure were undergone by conventional protocols. PGD for single gene disorders was carried out after biopsy of one or two blastomeres from the embryos on the third day. We performed the duplex nested PCR of the simultaneous amplification for the causative mutation loci as well as the SRY gene on Y chromosome in case of OTC deficiency and LA. Two different mutation loci of ITGB4 gene in EB case were amplified by the same protocol. The PCR products were analyzed by agarose gel electrophoresis, restriction fragment length polymorphism analysis or direct DNA sequencing. RESULTS: A total of 26 embryos were analyzed by duplex nested PCR. One or two blastomeres were biopsied, and successful diagnosis rate of PGD with PCR was 92.3% (24/26). There was no contamination in all PCR samples of negative controls (n=67). Five embryos (19.2%) were diagnosed as normal embryos, which were transferred to the mothers' uterus in each cases. In OTC deficiency case, singleton pregnancy was established. At 17 weeks of gestation, genetic normality of OTC gene in fetus was confirmed by amniocentesis. A healthy baby was successfully delivered at 36 weeks of gestation in OTC deficiency case. Unfortunately, pregnancies were not achievement in cases of EB and LA. CONCLUSION: This is the first report in Korea that healthy baby was born after specific PGD for OTC deficiency. Our results demonstrate that duplex nested PCR for single cell is an efficient method in identifying the gender and single gene mutation or two different mutation loci, simultaneously. This PGD procedure could provide normal healthy baby to the couple with a high risk of transmitting genetic diseases.
Abortion, Therapeutic ; Acidosis, Lactic* ; Amniocentesis ; Biopsy ; Blastomeres ; Diagnosis ; Electrophoresis, Agar Gel ; Embryonic Structures ; Epidermolysis Bullosa* ; Epidermolysis Bullosa, Junctional ; Family Characteristics ; Female ; Fetus ; Genes, sry ; Korea ; Oocyte Retrieval ; Ornithine Carbamoyltransferase Deficiency Disease* ; Ornithine Carbamoyltransferase* ; Ornithine* ; Ovulation Induction ; Oxidoreductases ; Polymerase Chain Reaction* ; Polymorphism, Restriction Fragment Length ; Pregnancy ; Preimplantation Diagnosis* ; Prostaglandins D ; Pyruvic Acid ; Sequence Analysis, DNA ; Sperm Injections, Intracytoplasmic ; Uterus ; Y Chromosome