06/12/2023
🫧CARMI SYNDROME🫧
🎓Junctional epidermolysis bullosa with pyloric atresia🎓
🌀 It is severe form of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and conge***al atresia of the pylorus and rarely of other portions of the gastrointestinal tract.
🌀 It is a hereditary diaorder with both parents as carriers
🌀 There is 25% risk of having an affected child at each pregnancy.
🌀 More than 100 cases have been reported worldwide.
🌀 Features🌀
🥏Severe blistering, atrophic scarring, and nail dystrophy.
🥏Conge***al absence of skin (aplasia cutis congenita).
🥏Intractable vomiting due to pyloric atresia, abdominal distension, and an absence of stools.
🥏Ear anomalies are also relatively common.
🥏 Oral cavity involvement / enamel hypoplasia.
🥏Other extracutaneous manifestations include involvement of the respiratory, gastrointestinal and genitourinary tracts.
🥏Growth delay and anemia, secondary to the extensive cutaneous and mucosal lesions, are common.
🌀DIAGNOSIS🌀
🧑⚕️By history of polyhydrominos, prematurity and consanguinous Marriage.
🧑⚕️Immunofluorescence microscopy** (IFM) of the skin lesions.
🧑⚕️Plain abdominal radiograph showing a single gastric bubble with no air visiblebeyond the pylorus diagnosing Pyloric Atresia.
🌀MANAGEMENT🌀
✨It involves a multidisciplinary team involving Paeditric medicine/Neonatology (including NICU care) alongwith Dermatology departments ensuring better preoperative and postoperative care of the patient for a good prognosis. ✨
💉Medical Management and ICU care. 💉
• Maintenance of IV access through umbilicus for TPN & Antibiotic therapy.
• Resuscitation & correction of electrolytes imbalance.
• Analgesia & Sedation.
• Non-adhering silicone-coated dressings
• Incubator care.
• NG intubation with minimal adhesive tape.
✂️Surgical Management✂️
🫧Surgical treatment for all forms of pyloric atresia consists of either removing or bypassing the obstruction.
✂️Minimally invasive/laparoscopic approach.
✂️Open surgical approach.
🫧Type-I Pyloric Atresia:
✂️Laser web excision, and laser radial incisions.
✂️Heineke-Mikulicz pyloroplasty if the lesion is within 1 cm of the pylorus.
🫧Type - II Pyloric atresia:
✂️Resection of the obstructed, fibrous segment and creation of a gastroduodenostomy.
🫧Type III Pyloric atresia:
✂️Gastrogastrostomy or gastroduodenostomy.